CHH
MCID: CRT002
MIFTS: 56

Cartilage-Hair Hypoplasia (CHH) malady

Bone diseases, Skin diseases, Fetal diseases, Blood diseases categories

Summaries for Cartilage-Hair Hypoplasia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 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 RNA transport and Ribosome biogenesis in eukaryotes. Affiliated tissues include bone, skin and b 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:63 Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare... more...

Description from OMIM:46 250250

Aliases & Classifications for Cartilage-Hair Hypoplasia

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
cartilage-hair hypoplasia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

cartilage-hair hypoplasia 8 9 42 20 21 46 10 44 48 60
metaphyseal chondrodysplasia, mckusick type 8 21 48
metaphyseal chondrodysplasia mckusick type 42 22
chh 42 21
autosomal recessive metaphyseal chondrodysplasia 48
mckusick's metaphyseal chondrodysplasia syndrome 21
metaphyseal chondrodysplasia, recessive type 21
mckusick type metaphyseal chondrodysplasia 8
cartilage hair hypoplasia like syndrome 42
cartilage hair syndrome 21


External Ids:

Disease Ontology8 DOID:14773
NCIt39 C61245
OMIM46 250250
MeSH34 C535916
SNOMED-CT56 234421004, 7720002
MESH via Orphanet35 C535916
ICD10 via Orphanet26 Q78.8
SNOMED-CT via Orphanet57 7720002
UMLS via Orphanet61 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

Clinical Features for Cartilage-Hair Hypoplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

250250

Clinical synopsis from OMIM:

250250

Symptoms:

48 (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
  • polynuclear cells/neutrophils anomalies/neutropenia
  • short limbs/micromelia/brachymelia
  • hypocalcemia
  • abnormal/absent ossification
  • tracheal atresia/stenosis
  • 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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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

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Sources:
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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32MalaCards
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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

32
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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Publications for Cartilage-Hair Hypoplasia

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50PubMed
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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. (24009312)
2014
2
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
3
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. (23643676)
2013
4
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
5
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
6
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
7
Novel mutation in boy with cartilage-hair hypoplasia. (21146796)
2010
8
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. (19626344)
2009
9
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. (20112607)
2009
10
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
11
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. (18164267)
2008
12
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (17701897)
2007
13
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
14
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
15
RMRP mutations in cartilage-hair hypoplasia. (16838329)
2006
16
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). (15125877)
2004
17
Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia. (15167352)
2004
18
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
19
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
20
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. (11251995)
2001
21
Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM *250250) (11043437)
2000
22
Increased incidence of cancer in patients with cartilage-hair hypoplasia. (10064668)
1999
23
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
24
Uniparental disomy in cartilage-hair hypoplasia. (9156319)
1997
25
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. (8777921)
1996
26
Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis. (9115626)
1996
27
Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID). (7554401)
1995
28
Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia. (7895753)
1995
29
Genetic homogeneity of cartilage-hair hypoplasia. (7860061)
1995
30
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. (7981754)
1993
31
Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases. (8235252)
1993
32
Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders (22420014)
1993
33
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. (1404295)
1992
34
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. (1437368)
1992
35
Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia. (1290847)
1992
36
Cartilage-hair-hypoplasia and Hodgkin disease. (1442902)
1992
37
Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature. (1789294)
1991
38
Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia. (2241093)
1990
39
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
40
Impaired culture generated cytotoxicity with preservation of spontaneous natural killer-cell activity in cartilage-hair hypoplasia. (6223049)
1983
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
Lymphocyte dysfunction in cartilage-hair hypoplasia: evidence for an intrinsic defect in cellular proliferation. (6806374)
1982
44
Letter: Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia. (1151542)
1975
45
Metaphyseal chondrodysplasia, McKusick type (cartilage hair hypoplasia). (4549299)
1974
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 rare and recessive cause of dwarfism. (5410371)
1970

Genetic Variations for Cartilage-Hair Hypoplasia

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Expression for genes affiliated with Cartilage-Hair Hypoplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cartilage-Hair Hypoplasia

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Pathways for genes affiliated with Cartilage-Hair Hypoplasia

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29KEGG
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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

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GO Terms for genes affiliated with Cartilage-Hair Hypoplasia

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet