Arthrogryposis, distal, type 2b1

Preferred Label : Arthrogryposis, distal, type 2b1;

Symbol : DA2B1;

CISMeF acronym : DA2B; FSSV; SHS; DA2B1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Freeman-sheldon syndrome variant; SHS; FSSV; Arthrogryposis multiplex congenita, distal, type 2b; Sheldon-hall syndrome; Arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities;

Description : Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the troponin T3, fast skeletal muscle gene (TNNT3, 600692.0001); Caused by mutation in the troponin I, fast-twitch skeletal muscle isoform, gene (TNNI2, 191043.0001); Caused by mutation in the myosin heavy chain 3 gene (MYH3, 160720.0005); Caused by mutation in the tropomyosin 2 gene (TPM2, 190990.0004);

Prefixed ID : #601680;

Details

Origin ID

601680;

UMLS CUI

C5193014;

Automatic exact mappings (from CISMeF team)
- ATRX wt Allele [NCIt concept]
- Hughes Stovin syndrome (disorder) [SNOMED CT concept]
- Human and social sciences [HPMULTI category]
- Saint Helena, Ascension and Tristan da Cunha [NCIt concept]
- Secretin Human [NCIt concept]
- TPM2 wt Allele [NCIt concept]
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 2B [DO Concept]
- distal arthrogryposis type 2B1 [DO Concept]
- troponin I2, fast skeletal type [ORDO Gene]
- troponin T3, fast skeletal type [ORDO Gene]
Currated CISMeF NLP mapping
- Distal arthrogryposis type 2B [MeSH concept]
- Distal arthrogryposis type 2B (disorder) [SNOMED CT concept]
- Sheldon-Hall syndrome [ICD-11 More detail]
- Sheldon-Hall syndrome [ORDO Disease]
- arthrogryposis distal type 2B [Disease (Nov.)]
- distal arthrogryposis type 2B [MeSH Supplementary Concept]
DO Cross reference
- distal arthrogryposis [DO Concept]
- distal arthrogryposis type 2B1 [DO Concept]
Genes related to phenotype
- Troponin I, fast-twitch skeletal muscle isoform [OMIM gene]
HPO term(s)
- Abnormality of the ear [HPO term]
- Absent phalangeal crease [HPO term]
- Aplasia/Hypoplastia of the interphalangeal creases [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad nasal root [HPO term]
- Calcaneovalgus deformity [HPO term]
- Camptodactyly of finger [HPO term]
- Distal arthrogryposis [HPO term]
- Downslanted palpebral fissures [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Long philtrum [HPO term]
- Mandibular prognathia [HPO term]
- Metatarsus adductus [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Prominent nasolabial fold [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Severe camptodactyly [HPO term]
- Short stature [HPO term]
- Talipes equinovarus [HPO term]
- Triangular face [HPO term]
- Ulnar deviation of the hand or of fingers of the hand [HPO term]
- Ulnar deviation of the wrist [HPO term]
- Webbed neck [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Sheldon-Hall syndrome [ORDO Disease]
See also inter- (CISMeF)
- PQBP1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal arthrogryposis type 2B [MeSH concept]
- Distal arthrogryposis type 2B (disorder) [SNOMED CT concept]
- Sheldon-Hall syndrome [ORDO Disease]
- arthrogryposis distal type 2B [Disease (Nov.)]
- distal arthrogryposis type 2B [MeSH Supplementary Concept]

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