CHH
MCID: CRT002
MIFTS: 56

Cartilage-Hair Hypoplasia (CHH) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases categories
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Summaries for Cartilage-Hair Hypoplasia

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. signs and symptoms may vary among affected individuals. people with this condition are also at an increased risk of developing cancer, particularly blood, skin, and immune system cancers. gastrointestinal problems are also common. cartilage-hair hypoplasia is caused by mutations in the rmrp gene and is inherited in an autosomal recessive fashion. last updated: 6/22/2011

MalaCards: Cartilage-Hair Hypoplasia, also known as metaphyseal chondrodysplasia, mckusick type, is related to anauxetic dysplasia and short stature, and has symptoms including depressed premaxillary region/midface, hypotrichosis/atrichia/atrichiasis/scalp hairlessness and myopia. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA component of mitochondrial RNA processing endoribonuclease), and among its related pathways are Ribosome biogenesis in eukaryotes and DNA strand elongation. Affiliated tissues include bone, skin and b cells, and related mouse phenotype mortality/aging.

Genetics Home Reference:21 Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.

Wikipedia:65 Cartilage?hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare... more...

Description from OMIM:47 250250

Aliases & Classifications for Cartilage-Hair Hypoplasia

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 22GTR, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cartilage-hair hypoplasia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

cartilage-hair hypoplasia 8 9 43 20 21 47 10 45 49 62
metaphyseal chondrodysplasia, mckusick type 8 21 49
metaphyseal chondrodysplasia mckusick type 43 22
chh 43 21
mckusick's metaphyseal chondrodysplasia syndrome 21
autosomal recessive metaphyseal chondrodysplasia 49
metaphyseal chondrodysplasia, recessive type 21
mckusick type metaphyseal chondrodysplasia 8
cartilage hair hypoplasia like syndrome 43
cartilage-hair syndrome 21


External Ids:

Disease Ontology8 DOID:14773
MeSH35 C535916
NCIt40 C61245
OMIM47 250250
SNOMED-CT58 7720002, 234421004
MESH via Orphanet36 C535916
ICD10 via Orphanet26 Q78.8
SNOMED-CT via Orphanet59 7720002
UMLS via Orphanet63 C0220748

Related Diseases for Cartilage-Hair Hypoplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Cartilage-Hair Hypoplasia:



Diseases related to cartilage-hair hypoplasia

Symptoms for Cartilage-Hair Hypoplasia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

250250

Clinical features from OMIM:

250250

Symptoms:

49 (show all 84)
  • depressed premaxillary region/midface
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • myopia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • flattened nose
  • rhizomelic micromelia
  • rib structure anomalies
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • stillbirth/neonatal death
  • hyperextensible joints/articular hyperlaxity
  • strabismus/squint
  • broad nasal root
  • short rib cage/thorax
  • enlarged diaphysis/diaphyses
  • structural anomalies of the pancreas
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • areflexia/hyporeflexia
  • cardiac septal defect
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • chromosome breakage
  • advanced bone age
  • neural tube defect
  • diaphyseal anomaly
  • blue sclerae
  • lack/delayed ossification of spine/vertebrae
  • small hand/acromicria
  • absent/decreased/thin eyebrows
  • enchondroses
  • terminal/third phalangeal bone of fingers broadened/deviated
  • beaked nose
  • sacral sinus/dimple
  • hypermetropia
  • tracheal atresia/stenosis
  • short limbs/micromelia/brachymelia
  • hypocalcemia
  • abnormal/absent ossification
  • polynuclear cells/neutrophils anomalies/neutropenia
  • short hand/brachydactyly
  • frontal bossing/prominent forehead
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypotonia
  • depressed nasal bridge
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • hepatomegaly/liver enlargement (excluding storage disease)
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • delayed bone age
  • thickened/hypertrophic/fibromatous gingivae
  • long/large ear
  • lordosis
  • high vaulted/narrow palate
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • low set ears/posteriorly rotated ears
  • short neck
  • spindle shaped fingers
  • epiphyseal anomaly
  • autosomal recessive inheritance
  • large face
  • scoliosis
  • eeg anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • bowed diaphysis/diaphyses/long bones
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • brachycephaly/flat occiput
  • cardiomyopathy/hypertrophic/dilated
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anaemia
  • metaphyseal anomaly
  • anomalies of the ribs
  • epicanthic folds
  • narrow rib cage/thorax
  • visual loss/blindness/amblyopia
  • absent/hypotonic/flaccid abdominal wall muscles
  • short stature/dwarfism/nanism
  • broad nose/nasal bridge
  • pectus carinatum
  • abnormal vertebral size/shape
  • malabsorption/chronic diarrhea/steatorrhea
  • anomalies of bones/skeletal anomalies
  • restricted joint mobility/joint stiffness/ankylosis
  • mucopolysacchariduria
  • retinitis pigmentosa/retinal pigmentary changes
  • anteverted nares/nostrils
  • mesomelic micromelia

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cartilage-Hair Hypoplasia

Search NIH Clinical Center for Cartilage-Hair Hypoplasia

Genetic Tests for Cartilage-Hair Hypoplasia

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20GeneTests, 22GTR
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Genetic tests related to Cartilage-Hair Hypoplasia:

id Genetic test Affiliating Genes
1 Cartilage-Hair Hypoplasia20 RMRP
2 Metaphyseal Chondrodysplasia, Mckusick Type22

Anatomical Context for Cartilage-Hair Hypoplasia

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33MalaCards
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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

33
Bone, Skin, B cells, T cells, Pancreas, Lung, Liver, Heart, Bone marrow

Animal Models for Cartilage-Hair Hypoplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.6RMRP, COL10A1, RPS19, IL11RA, CCNB2, RNASEH1

Publications for Cartilage-Hair Hypoplasia

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52PubMed
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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
2
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
3
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. (24330304)
2013
4
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
5
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
6
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. (21813924)
2011
7
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
8
An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency. (21063072)
2010
9
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
10
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
11
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
12
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
13
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
14
Cartilage-hair hypoplasia. (17628888)
2007
15
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (17937437)
2007
16
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
17
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
18
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
2005
19
The natural history of severe anemia in cartilage-hair hypoplasia. (16097009)
2005
20
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). (15125877)
2004
21
Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia. (15167352)
2004
22
Increased mortality in cartilage-hair hypoplasia. (11124791)
2001
23
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
24
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. (11251995)
2001
25
Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia. (10633276)
2000
26
Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system. (10690856)
2000
27
Deficiency of humoral immunity in cartilage-hair hypoplasia. (11035826)
2000
28
Radiologic changes in infancy in McKusick cartilage hair hypoplasia. (10494084)
1999
29
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. (9799296)
1998
30
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. (8777921)
1996
31
Cartilage-hair hypoplasia associated with IgG2 deficiency. (8775556)
1995
32
Locus homogeneity for cartilage-hair hypoplasia proven? (7649562)
1995
33
Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers. (7784364)
1995
34
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. (7977356)
1994
35
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. (7981754)
1993
36
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. (8444246)
1993
37
Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases. (8235252)
1993
38
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. (1404295)
1992
39
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. (1437368)
1992
40
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. (1743218)
1991
41
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
42
Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth. (6984669)
1982
43
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. (7163267)
1982
44
An inverted ratio for T-helper/T-suppressor cells, and selective deficiency of cell-mediated immunity, in a girl with cartilage hair hypoplasia. (6450048)
1980
45
Craniofacial and dental characteristics of cartilage-hair hypoplasia. (272241)
1978
46
Cellular and humoral immmunity in cartilage-hair hypoplasia. (724297)
1978
47
Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs. (728552)
1978
48
Letter: Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia. (1151542)
1975
49
Metaphyseal chondrodysplasia, McKusick type (cartilage hair hypoplasia). (4549299)
1974
50
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. (14284412)
1965

Variations for Cartilage-Hair Hypoplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cartilage-Hair Hypoplasia:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1RMRP: n.71A> Gsingle nucleotide variantPathogenicrs199476103GRCh37Chr 9, 35657945: 35657945
2RMRPRMRP, 262G-Tsingle nucleotide variantPathogenic
3RMRPRMRP, 10-BP DUP, NT-13duplicationPathogenic
4RMRPRMRP, 15-BP DUP, NT-10duplicationPathogenic
5RMRPRMRP, 2-BP DUP, 98TGduplicationPathogenic
6RMRPRMRP, 6-BP INS, NT-6insertionPathogenic
7RMRPRMRP, 18-BP DUP, NT-3duplicationPathogenic
8RMRPRMRP, 193G-Asingle nucleotide variantPathogenic
9RMRPRMRP, 17-BP DUP, NT3duplicationPathogenic
10RMRPRMRP, 182G-Asingle nucleotide variantPathogenic
11RMRPRMRP, 1-BP INS, 195TinsertionPathogenic
12RMRPRMRP, 63C-Tsingle nucleotide variantPathogenic

Expression for genes affiliated with Cartilage-Hair Hypoplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cartilage-Hair Hypoplasia

Search GEO for disease gene expression data for Cartilage-Hair Hypoplasia.

Pathways for genes affiliated with Cartilage-Hair Hypoplasia

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50PathCards, 30KEGG, 55Reactome, 60Thomson Reuters
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Pathways related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RPP25, POP5
2
Show member pathways
9.5RNASEH2A, RNASEH1
39.1CDC14A, CCNB2

Compounds for genes affiliated with Cartilage-Hair Hypoplasia

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GO Terms for genes affiliated with Cartilage-Hair Hypoplasia

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16Gene Ontology
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Biological processes related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tRNA processingGO:0080339.6RPP25, POP5
2RNA catabolic processGO:0064019.4RNASEH2A, RNASEH1
3RNA phosphodiester bond hydrolysisGO:0905019.2RNASEH2A, RNASEH1

Molecular functions related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribonuclease activityGO:0045409.5RNASEH2A, RNASEH1
2RNA-DNA hybrid ribonuclease activityGO:0045239.4RNASEH2A, RNASEH1
3ribonuclease P activityGO:0045269.3RPP25, POP5

Products for genes affiliated with Cartilage-Hair Hypoplasia

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Sources for Cartilage-Hair Hypoplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet