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HJDD
MCID: ABN011
MIFTS: 26
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Abnormal Hair, Joint Laxity, and Developmental Delay (HJDD)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Abnormal Hair, Joint Laxity, and Developmental Delay:
Characteristics:Inheritance:
Autosomal recessive 57
Prevelance:
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome:
Infancy 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on report of 1 patient (last curated june 2019) normal hair at birth Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Neuronal diseases Mental diseases
Orphanet: 58
Rare skin diseases |
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OMIM®: 57 Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019). (261990) (Updated 08-Dec-2022) MalaCards based summary: Abnormal Hair, Joint Laxity, and Developmental Delay, is also known as pili torti-developmental delay-neurological abnormalities syndrome. An important gene associated with Abnormal Hair, Joint Laxity, and Developmental Delay is HEPHL1 (Hephaestin Like 1). Affiliated tissues include skin, and related phenotypes are ataxia and global developmental delay UniProtKB/Swiss-Prot: 73 An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa. GARD: 19 Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. Orphanet: 58 Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. |
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Human phenotypes related to Abnormal Hair, Joint Laxity, and Developmental Delay:58 30 (show all 39)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:261990 (Updated 08-Dec-2022) |
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Organs/tissues related to Abnormal Hair, Joint Laxity, and Developmental Delay:
MalaCards :
Skin
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Articles related to Abnormal Hair, Joint Laxity, and Developmental Delay:
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Genes related to Abnormal Hair, Joint Laxity, and Developmental Delay (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Abnormal Hair, Joint Laxity, and Developmental Delay:5
UniProtKB/Swiss-Prot genetic disease variations for Abnormal Hair, Joint Laxity, and Developmental Delay:73
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Search
GEO
for disease gene expression data for Abnormal Hair, Joint Laxity, and Developmental Delay.
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