CHH
MCID: CRT002
MIFTS: 50

Cartilage-Hair Hypoplasia (CHH) malady

Bone, Skin, Fetal, Blood categories

Summaries for Cartilage-Hair Hypoplasia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 metaphyseal dysplasia without hypotrichosis, and has symptoms including large face, depressed premaxillary region/midface and blue sclerae. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA component of mitochondrial RNA processing endoribonuclease), and among its related pathways are RNA transport and Ribosome biogenesis in eukaryotes. Affiliated tissues include bone marrow, skin and t cells.

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:64 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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 22GTR, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Skin, Blood


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 61
metaphyseal chondrodysplasia, mckusick type 8 21 49
metaphyseal chondrodysplasia mckusick type 43 22
chh 43 21
autosomal recessive metaphyseal chondrodysplasia 49
mckusick's metaphyseal chondrodysplasia syndrome 21
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
NCIt40 C61245
OMIM47 250250
MeSH35 C535916
SNOMED-CT57 234421004, 7720002
MESH via Orphanet36 C535916
ICD10 via Orphanet26 Q78.8
SNOMED-CT via Orphanet58 7720002
UMLS via Orphanet62 C0220748

Related Diseases for Cartilage-Hair Hypoplasia

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



Diseases related to cartilage-hair hypoplasia

Clinical Features for Cartilage-Hair Hypoplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

250250

Clinical synopsis from OMIM:

250250

Symptoms:

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

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Cartilage-Hair Hypoplasia

Drug clinical trials:

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Search NIH Clinical Center for Cartilage-Hair Hypoplasia

Search CenterWatch for Cartilage-Hair Hypoplasia

Genetic Tests for Cartilage-Hair Hypoplasia

Sources:
20GeneTests, 22GTR
See all sources

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

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

33
Bone marrow, Skin, T cells, B cells

Animal Models for Cartilage-Hair Hypoplasia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cartilage-Hair Hypoplasia

Sources:
51PubMed
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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
2
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. (24009312)
2014
3
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
4
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. (23140882)
2013
5
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. (23643676)
2013
6
Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature. (24217815)
2013
7
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
8
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
9
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. (21570718)
2011
10
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
11
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. (20538026)
2010
12
Novel mutation in boy with cartilage-hair hypoplasia. (21146796)
2010
13
Cartilage-hair hypoplasia and severe allergy. (19394685)
2009
14
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. (20112607)
2009
15
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
16
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
17
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
18
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. (18627050)
2008
19
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (17701897)
2007
20
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
21
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. (16254002)
2005
22
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). (15125877)
2004
23
RMRP mutations in Japanese patients with cartilage-hair hypoplasia. (14608646)
2003
24
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. (11940090)
2002
25
Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. (12407544)
2002
26
Hirschsprung disease associated with severe cartilage-hair hypoplasia. (11391344)
2001
27
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
28
Deficiency of humoral immunity in cartilage-hair hypoplasia. (11035826)
2000
29
Increased incidence of cancer in patients with cartilage-hair hypoplasia. (10064668)
1999
30
Cartilage-hair hypoplasia syndrome: increased apoptosis of T lymphocytes is associated with altered expression of Fas (CD95), FasL (CD95L), IAP, Bax, and Bcl2. (10634217)
1999
31
T cell subsets and T cell function in cartilage-hair hypoplasia. (9584003)
1997
32
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. (8777921)
1996
33
Cartilage-hair hypoplasia associated with IgG2 deficiency. (8775556)
1995
34
Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID). (7554401)
1995
35
Genetic homogeneity of cartilage-hair hypoplasia. (7860061)
1995
36
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. (8034306)
1994
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
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. (2277385)
1990
40
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
41
Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth. (6984669)
1982
42
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. (7163267)
1982
43
Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. (6972168)
1981
44
Craniofacial and dental characteristics of cartilage-hair hypoplasia. (272241)
1978
45
Cellular and humoral immmunity in cartilage-hair hypoplasia. (724297)
1978
46
Cartilage hair hypoplasia in a non-Amish male. (4461092)
1974
47
Biophysical and biochemical studies of the hair in cartilage-hair hypoplasia. (4787841)
1973
48
Cartilage hair hypoplasia. (4761063)
1973
49
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. (4188537)
1970
50
Cartilage-hair hypoplasia. A case report. (5675408)
1968

Genetic Variations for Cartilage-Hair Hypoplasia

Expression for genes affiliated with Cartilage-Hair Hypoplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG
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Pathways related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5POP7, POP5, RPP25
29.5POP7, POP5, RPP25

Compounds for genes affiliated with Cartilage-Hair Hypoplasia

GO Terms for genes affiliated with Cartilage-Hair Hypoplasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolar ribonuclease P complexGO:0056559.8POP7, POP5
2centrosomeGO:0058138.6NME1, CDC14A, CCNB2, RPP25
3mitochondrionGO:0057397.7RPP25, RPS14, NUDT2, RNASEH1, NME1, KIAA0391

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

idNameGO IDScoreTop Affiliating Genes
1RNA catabolic processGO:0064019.8RNASEH2A, RNASEH1
2maturation of SSU-rRNAGO:0304909.6RPS19, RPS14
3ribosomal small subunit assemblyGO:0000289.4RPS14, RPS19
4tRNA processingGO:0080338.9KIAA0391, POP7, POP5, RPP25

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

idNameGO IDScoreTop Affiliating Genes
1ribonuclease activityGO:0045409.8RNASEH2A, RNASEH1
2ribonuclease H activityGO:0045239.5RNASEH2A, RNASEH1
3ribonuclease P activityGO:0045269.4POP7, POP5, RPP25

Products for genes affiliated with Cartilage-Hair Hypoplasia

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Sources for Cartilage-Hair Hypoplasia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet