Cartilage-hair hypoplasia

Preferred Label : Cartilage-hair hypoplasia;

Symbol : CHH;

CISMeF acronym : CHH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal chondrodysplasia, mckusick type;

Description : Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by McKusick et al. (1965) in the Old Order Amish, a religious isolate (see also McKusick, 1978). Makitie et al. (1995) gave an extensive review of CHH.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial RNA-processing endoribonuclease gene (RMRP, 157660.0001);

Neoplasia : Increased malignancy risk, especially lymphoma and skin neoplasm;

Laboratory abnormalities : Diminished lymphocyte response to phytohemagglutinin;

Prefixed ID : #250250;

Détails

Origin ID

250250;

UMLS CUI

C0220748;

Automatic exact mappings (from CISMeF team)
- RMRP wt Allele [NCIt concept]
- hypothalamo-hypophyseal system [MeSH Descriptor]
- symbol withdrawn CHH [HGNC gene]
Currated CISMeF NLP mapping
- Cartilage Hair Hypoplasia [NCIt concept]
- Cartilage-hair hypoplasia [ICD-11 More detail]
- Cartilage-hair hypoplasia [MedDRA Preferred Term]
- Cartilage-hair hypoplasia [MeSH concept]
- Cartilage-hair hypoplasia [ORDO Disease]
- Metaphyseal chondrodysplasia, McKusick type (disorder) [SNOMED CT concept]
- cartilage-hair hypoplasia [DO Concept]
- cartilage-hair hypoplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, mckusick type [SNOMED Notion]
DO Cross reference
- cartilage-hair hypoplasia [DO Concept]
False automatic mappings
- Congenital hypothalamic hamartoma syndrome [ORDO Disease]
Genes related to phenotype
- Mitochondrial rna-processing endoribonuclease, rna component of [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Absent pubertal growth spurt [HPO term]
- Aganglionic megacolon [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cellular immunodeficiency [HPO term]
- Congenital hypoplastic anemia [HPO term]
- Esophageal atresia [HPO term]
- Fair hair [HPO term]
- Femoral bowing [HPO term]
- Fine hair [HPO term]
- Flaring of lower rib cage [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Impaired lymphocyte transformation with phytohemagglutinin [HPO term]
- Increased risk of malignancy [HPO term]
- Joint hypermobility [HPO term]
- Limited elbow extension [HPO term]
- Lumbar hyperlordosis [HPO term]
- Lymphoma [HPO term]
- Lymphopenia [HPO term]
- Macrocytic anemia [HPO term]
- Malabsorption [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal widening [HPO term]
- Narrow vertebral interpedicular distance [HPO term]
- Neonatal short-limb short stature [HPO term]
- Neoplasm of the skin [HPO term]
- Neutropenia [HPO term]
- Occasional brachycephaly [HPO term]
- Scoliosis [HPO term]
- Short palm [HPO term]
- Short-limb dwarfism identifiable neonatally [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse facial hair [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Susceptibility to chickenpox [HPO term]
- Weakness [HPO term]
- fine, sparse, light-colored hair [HPO term]
- sparse eyebrows, eyelashes, and beard [HPO term]
ORDO concept(s)
- Cartilage-hair hypoplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cartilage Hair Hypoplasia [NCIt concept]
- Cartilage-hair hypoplasia [MedDRA Preferred Term]
- Cartilage-hair hypoplasia [ORDO Disease]
- Cartilage-hair hypoplasia [MeSH concept]
- Cartilage-hair hypoplasia [ICD-11 More detail]
- Metaphyseal chondrodysplasia, McKusick type (disorder) [SNOMED CT concept]
- cartilage-hair hypoplasia [MeSH Supplementary Concept]
- cartilage-hair hypoplasia [DO Concept]
- metaphyseal chondrodysplasia, mckusick type [SNOMED Notion]

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