MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. ... Individuals with MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early childhood. MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is most frequently seen in the Navajo population of the southwestern United States. ... Frequency MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome is thought to be a rare condition. ... MPV17 gene mutations that cause MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome lead to production of a protein with impaired function.
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. ... Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. ... Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). ... The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. ... Learn more about the gene associated with X-linked hyper IgM syndrome CD40LG Inheritance Pattern This condition is inherited in an X-linked recessive pattern .
Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci , but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections).
Summary Clinical characteristics. X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. ... The diagnosis of X-linked hyper IgM syndrome is established in a male proband with typical clinical and laboratory findings and a hemizygous pathogenic variant in CD40LG identified by molecular genetic testing. ... By definition, X-linked hyper IgM syndrome (HIGM1) is inherited in an X-linked manner. ... Titrate IgG levels as for primary antibody deficiency syndromes. Prophylactic antibiotics against opportunistic infections incl P jirovecii Institute appropriate antimicrobial therapy for acute infections. ... Recommended Surveillance for Individuals with X-Linked Hyper IgM Syndrome View in own window System/Concern Evaluation Frequency Hematology CBC w/differential to monitor for cytopenias At least every 6 mos to yrly if stable or w/any change in clinical status Immunology IgG levels IgG frequency depends on time needed to achieve adequate IgG levels; similar to those w/primary antibody deficiency syndromes.
Hyper IgM syndrome is a type of primary immunodeficiency syndrome. ... Primary immunodeficiencies are inherited, meaning they are passed down from parents to children. Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. ... There are five different types of hyper IgM syndromes (types 1-5). The types are distinguished by the location of the gene mutation involved.
Brahmi et al. (1983) reported father and 2 daughters with the hyper-IgM syndrome. They concluded that the genetics of the hyper-IgM syndrome is 'still unresolved.' ... In a review paper, Notarangelo et al. (1992) stated that hyper-IgM syndrome had been shown to be X-linked, autosomal recessive, and autosomal dominant. ... Thomas et al. (1995) performed successful allogeneic bone marrow transplantation in a boy with hyper-IgM syndrome 1 using his carrier sister as the donor. ... Allen et al. (1993) demonstrated this to be case by the finding of point mutations in 3 of 4 patients with the syndrome (300386.0003-300386.0005). Similarly, Aruffo et al. (1993) identified mutations in the CD40LG gene in patients with the syndrome (300386.0001-300386.0002). Animal Model Rosen (1975) stated that 'a similar syndrome of X-linked immunodeficiency with increased IgM has been found in mice.'
Barr et al. (1993) determined that PAX3 (606597), which had previously been found to be mutated in Waardenburg syndrome, was affected by a t(2;13)(q35;q14) translocation associated with alveolar rhabdomyosarcoma.
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.
Two of the probands, a 14-year-old Han Chinese boy and a 7-year-old Han Chinese girl, exhibited a retinal phenotype without syndromic features except for mild brachydactyly in the girl.
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood).
Clinical Features Zori et al. (1992) described a family in which several members had relative macrocephaly, pectus excavatum, short stature, dysplastic nails, and developmental delay that was primarily motor and resolved during childhood. There was one instance of male-to-male transmission. The father, who was judged to be affected, was 172 cm tall (25th percentile) with a head circumference of 58 cm (98th percentile). He had pectus excavatum and small dysplastic nails on his toes. Inheritance Male-to-male transmission in the family reported by Zori et al. (1992) suggested autosomal dominant inheritance. INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Head - Macrocephaly, relative Face - Midface hypoplasia - Prominent forehead - Prominent supraorbital ridges Nose - Depressed nasal bridge (in childhood) - Small, upturned nose (in childhood) Teeth - No abnormalities of teeth CHEST External Features - Pectus excavatum SKIN, NAILS, & HAIR Skin - No abnormalities of sweating Nails - Dysplastic nails (1st and 2nd toes) Hair - No abnormalities of hair MUSCLE, SOFT TISSUES - Hypotonia NEUROLOGIC Central Nervous System - Hypotonia - Developmental delay, primarily motor, resolves in childhood MISCELLANEOUS - One family reported (as of May 2012) ▲ Close
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality.
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia.
Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair.
Book syndrome is a very rare type of ectodermal dysplasia . ... Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypoplastic (underdeveloped) nails; eyebrow anomalies; a unilateral simian crease ; and poorly formed dermatoglyphics (skin patterns on the hands and feet). Book syndrome is inherited in an autosomal dominant manner.
The author designated the disorder PHC syndrome. Salinas et al. (1992) described an 18-year-old Caucasian woman with congenitally missing premolars, narrow palate, severe functional hyperhidrosis of the hands and feet, small hands, and hypoplastic nails. The authors suggested that this may be a new case of Book syndrome. However, the patient lacked premature graying of hair, and had the additional features of disorganized eyebrows, unilateral simian creases, poorly formed dermatoglyphs, and poorly formed bilateral distal digital creases. Salinas et al. (1992) suggested that the lack of other reports of Book syndrome may result from the clinical features being of relatively little consequence to most affected individuals or from symptoms being treated as separate entities by different specialists.
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay.
NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash.
A number sign (#) is used with this entry because of evidence that familial cold autoinflammatory syndrome-2 (FCAS2) is caused by heterozygous mutation in the NLRP12 gene (609648) on chromosome 19q13. Description Familial cold autoinflammatory syndrome-2 (FCAS2) is an autosomal dominant autoinflammatory disorder characterized by episodic and recurrent rash, urticaria, arthralgia, myalgia, and headache. ... For a phenotypic description and a discussion of genetic heterogeneity of familial cold autoinflammatory syndrome, see FCAS1 (120100). Clinical Features Jeru et al. (2008) reported 2 unrelated families from Guadeloupe with a periodic fever syndrome.
Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate.
14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia.
A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability.
Goodman et al. (1979) applied the designation ACPS IV to a syndrome they observed in 3 offspring of a first-cousin marriage. They felt that the presence of clinodactyly, camptodactyly, and ulnar deviation distinguished the disorder from Carpenter syndrome. In 3 of 8 children of a first-cousin Iranian Jewish couple, Goodman et al. (1979) observed a seemingly new form of acrocephalopolysyndactyly. ... One had died previously of acyanotic congenital heart malformation at age 2 and one of the living sibs, a female aged 17 years, had Eisenmenger syndrome. Hall et al. (1980) questioned that one can be certain of the distinctness of the autosomal recessive acrocephalopolysyndactylies because of the marked intrafamilial variability. ... Cohen et al. (1987) concluded that Goodman syndrome is a variant of the Carpenter syndrome (201000).
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
Geormaneanu et al. (1978) reported a 7-year-old boy and his father with the syndrome and a possibly coincidental t(13q;14q) translocation. ... Under the designation of Ruvalcaba syndrome, Sugio and Kajii (1984) described a kindred with 9 affected persons in 4 generations. ... Hunter (1985) disagreed with the diagnosis of Sugio and Kajii (1984) and considered the disorder to be different from Ruvalcaba syndrome. He pointed to the absence of mental retardation and microcephaly and the presence of sparse hair, beaked nose, long upper lip, and severe degree of metacarpal phalangeal shortness. Niikawa and Kamei (1986) proposed that this is a separate entity which should be called trichorhinophalangeal syndrome, type III (TRPS3; 190351). Adachi et al. (2010) reported a Japanese girl with clinical manifestations identical to those reported by Ruvalcaba et al. (1971). ... Adachi et al. (2010) concluded that Ruvalcaba syndrome is a distinct disease entity. INHERITANCE - Autosomal dominant GROWTH Height - Short stature HEAD & NECK Head - Microcephaly Eyes - Downslanting palpebral fissures - Central tapetoretinal dystrophy Nose - Narrow nose - Hypoplastic alae nasi Teeth - Crowded teeth CHEST External Features - Narrow chest Breasts - Large areolae GENITOURINARY External Genitalia (Male) - Inguinal hernia Internal Genitalia (Male) - Cryptorchidism SKELETAL Spine - Scoliosis - Kyphosis Limbs - Short limbs - Limitation of elbow extension - Prominent elbows Hands - Small hands - Short metacarpals - Short phalanges Feet - Small feet - Short metatarsals NEUROLOGIC Central Nervous System - Mental retardation ENDOCRINE FEATURES - Delayed puberty ▲ Close
Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen.
The RS score (Richter syndrome score), which is an estimate of the patient's prognosis, is based on the patient's performance status , LDH, platelet count, the size of the lymphoma tumors, and the number of prior therapies already received. [4] Overall, the median survival is between five and eight months. [6] Untreated, RS is invariably fatal. ... PMID 16947317 . ^ a b c d Rossi D, Gaidano G (March 2009). "Richter syndrome: molecular insights and clinical perspectives" . ... "Recent advances in the diagnosis and therapy of Richter's syndrome" . Medical Oncology (Northwood, London, England) . 24 (1): 17–32. doi : 10.1007/BF02685899 . ... "Clinical Outcomes and Prognostic Factors in Patients With Richter's Syndrome Treated With Chemotherapy or Chemoimmunotherapy With or Without Stem-Cell Transplantation" . Journal of Clinical Oncology . 24 (15): 2343–2351. doi : 10.1200/JCO.2005.05.0187 . PMID 16710033 . Richter's syndrome on CancerResearchUK
Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.
A number sign (#) is used with this entry because mitochondrial DNA (mtDNA) depletion syndrome-2 (MTDPS2) is caused by homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene (TK2; 188250) on chromosome 16q21. Description Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. ... Oskoui et al. (2006) reported 4 unrelated patients with the myopathic form of mtDNA depletion syndrome due to TK2 mutations. There was significant clinical variability: 1 patient had a rapidly progressive course with death at age 19 months, whereas the others showed a more protracted course. ... Molecular Genetics In patients with the myopathic form of mtDNA depletion syndrome, Saada et al. (2001) identified mutations in the mitochondrial thymidine kinase gene, H90N and I181N, now H163N (188250.0001) and I254N (188250.0002), respectively. ... In a family originally described by Tritschler et al. (1992) in which 3 sibs had myopathic mtDNA depletion syndrome, Mancuso et al. (2003) identified homozygosity for the T150M mutation.
A number sign (#) is used with this entry because of evidence that Joubert syndrome-25 (JBTS25) is caused by homozygous or compound heterozygous mutation in the CEP104 gene (616690) on chromosome 1p36. Description Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour et al., 2015) For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Srour et al. (2015) reported 3 unrelated children with Joubert syndrome. ... Molecular Genetics In 3 unrelated children with Joubert syndrome-25, Srour et al. (2015) identified homozygous or compound heterozygous mutations in the CEP104 gene (616690.0001-616690.0003).
Paris-Trousseau syndrome Other names Paris-Trousseau thrombocytopenia [1] Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorrhagic tendency associated with 11q chromosome deletion. [2] [3] It manifests as a granular defect within an individual's platelets . It is characterized by thrombocytes with defects in α-granule components which affects the cell's surface area and, consequently, its ability to spread when necessary. [4] FLI1 has been suggested as a candidate. [5] See also [ edit ] Jacobsen syndrome References [ edit ] ^ "Paris-Trousseau thrombocytopenia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . ... Retrieved 15 March 2019 . ^ Krishnamurti L, Neglia JP, Nagarajan R, et al. (April 2001). "Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome".
Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
Heterozygous deletion of the FLI1 gene is believed to be responsible for the thrombocytopenia found in Paris-Trousseau type of thrombocytopenia (TCPT; 188025) and Jacobsen Syndrome (JBS; 147791), both of which are contiguous gene deletion syndromes. ... There were no other clinical features associated with Paris-Trousseau syndrome or Jacobsen Syndrome. The parents were unaffected.
A number sign (#) is used with this entry because of evidence that the Paris-Trousseau type of thrombocytopenia (TCPT) is a contiguous gene deletion syndrome. Clinical Features Favier et al. (1993) reported the cases of a 30-year-old woman and her 1-year-old son with chronic thrombocytopenia associated with mild hemorrhagic complications. ... Using electron microscopy to examine the platelets of an infant with an 11q23.3-qter deletion and clinical features of Jacobsen syndrome (147791), Krishnamurti et al. (2001) identified giant alpha-granules identical to those described in Paris-Trousseau syndrome. They suggested that TCPT may be a variant of Jacobsen syndrome and that the thrombocytopenia in all cases of 11q23.3 deletion is due to dysmegakaryopoiesis, with formation of giant alpha-granules during prolonged residence in the bone marrow. ... Favier et al. (2003) noted clinical, hematologic, and cytogenetic similarities between this cohort of patients and patients with Jacobsen syndrome and stated that their findings demonstrated clear overlap between the 2 syndromes. ... INHERITANCE - Isolated cases HEAD & NECK Head - Trigonocephaly Face - Micrognathia Eyes - Ptosis ABDOMEN Gastrointestinal - Pyloric stenosis SKELETAL Hands - Clinodactyly NEUROLOGIC Central Nervous System - Mental retardation HEMATOLOGY - Thrombocytopenia - Hemorrhagic diathesis, mild - Increased bleeding time - Giant platelet alpha granules (peripheral blood) - Increased megakaryocytes (bone marrow) - Increased micromegakaryocytes (bone marrow) LABORATORY ABNORMALITIES - Chromosome 11q23.3 deletion MISCELLANEOUS - Paris-Trousseau thrombocytopenia can occur in Jacobsen syndrome ( 147791 ) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 MOLECULAR BASIS - A contiguous gene syndrome caused by deletion of the friend leukemia virus integration 1 gene (FLI1, 193067 ) and perhaps other genes in 11q23 ▲ Close
A number sign (#) is used with this entry because of evidence that nephrotic syndrome type 19 (NPHS19) is caused by compound heterozygous mutation in the NUP160 gene (607614) on chromosome 11p11. ... For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). Clinical Features Braun et al. (2018) reported 2 Chinese sibs (family 17F00494) with nephrotic syndrome. The older sib presented at age 16 years with nephrotic syndrome that was resistant to therapy with steroids or other immunosuppressive drugs. ... INHERITANCE - Autosomal recessive GENITOURINARY Kidneys - Steroid-resistant nephrotic syndrome - Focal segmental glomerulosclerosis - Chronic kidney disease LABORATORY ABNORMALITIES - Proteinuria MISCELLANEOUS - Onset in first or second decade - Progressive disorder - One Chinese family has been reported (last curated November 2018) MOLECULAR BASIS - Caused by mutation in the nucleoporin, 160-kD gene (NUP160, 607614.0001 ) ▲ Close