MCID: CRT002
MIFTS: 45

Cartilage-Hair Hypoplasia malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Cartilage-Hair Hypoplasia

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Cartilage-Hair Hypoplasia, Aliases & Descriptions:

Name: Cartilage-Hair Hypoplasia 45 9 10 41 20 21 11 43 60
Metaphyseal Chondrodysplasia, Mckusick Type 9 41 21
Mckusick's Metaphyseal Chondrodysplasia Syndrome 21 22
Cartilage Hair Hypoplasia Like Syndrome 41 60
Chh 41 21
 
Autosomal Recessive Metaphyseal Chondrodysplasia 41
Metaphyseal Chondrodysplasia, Recessive Type 21
Mckusick Type Metaphyseal Chondrodysplasia 9
Metaphyseal Chondrodysplasia Mckusick Type 41
Cartilage-Hair Syndrome 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


External Ids:

OMIM45 250250
Disease Ontology9 DOID:14773
SNOMED-CT55 7720002, 234421004
NCIt38 C61245
MeSH33 C535916

Summaries for Cartilage-Hair Hypoplasia

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NIH Rare Diseases:41 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 based summary: Cartilage-Hair Hypoplasia, also known as metaphyseal chondrodysplasia, mckusick type, is related to anauxetic dysplasia and metaphyseal dysplasia, and has symptoms including autosomal recessive inheritance, brachycephaly and sparse eyebrow. 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 t 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.

OMIM:45 Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by... (250250) more...

Wikipedia:63 Cartilage?hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare... more...

Related Diseases for Cartilage-Hair Hypoplasia

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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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Symptoms by clinical synopsis from OMIM:

250250

Clinical features from OMIM:

250250

HPO human phenotypes related to Cartilage-Hair Hypoplasia:

(show all 30)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 brachycephaly HP:0000248
3 sparse eyebrow HP:0000535
4 sparse eyelashes HP:0000653
5 limited elbow extension HP:0001377
6 joint hypermobility HP:0001382
7 neutropenia HP:0001875
8 lymphopenia HP:0001888
9 macrocytic anemia HP:0001972
10 malabsorption HP:0002024
11 esophageal atresia HP:0002032
12 fine hair HP:0002213
13 aganglionic megacolon HP:0002251
14 fair hair HP:0002286
15 abnormality of pelvic girdle bone morphology HP:0002644
16 scoliosis HP:0002650
17 lymphoma HP:0002665
18 lumbar hyperlordosis HP:0002938
19 impaired lymphocyte transformation with phytohemagglutinin HP:0003347
20 short palm HP:0004279
21 congenital hemolytic anemia HP:0004804
22 congenital hypoplastic anemia HP:0004810
23 susceptibility to chickenpox HP:0005360
24 cellular immunodeficiency HP:0005374
25 flaring of lower rib cage HP:0006589
26 sparse facial hair HP:0007464
27 neoplasm of the skin HP:0008069
28 narrow vertebral interpedicular distance HP:0008450
29 neonatal short-limb short stature HP:0008921
30 metaphyseal dysplasia HP:0100255

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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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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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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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

31
Bone, Skin, T cells, Bone marrow, B cells

Animal Models for Cartilage-Hair Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.6RMRP, COL10A1, RPS19, IL11RA, CCNB2, RNASEH1

Publications for Cartilage-Hair Hypoplasia

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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 121)
idTitleAuthorsYear
1
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
2015
2
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. (25764362)
2015
3
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
4
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
5
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. (24330304)
2013
6
Cartilage Hair Hypoplasia: First report from Iran. (24791127)
2013
7
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
8
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
9
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. (21813924)
2011
10
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
11
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
12
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
13
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
14
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
15
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
16
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
17
Cartilage-hair hypoplasia. (17628888)
2007
18
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (17937437)
2007
19
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
20
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
21
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
2005
22
The natural history of severe anemia in cartilage-hair hypoplasia. (16097009)
2005
23
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). (15125877)
2004
24
Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia. (15167352)
2004
25
Increased mortality in cartilage-hair hypoplasia. (11124791)
2001
26
Hirschsprung disease associated with severe cartilage-hair hypoplasia. (11391344)
2001
27
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
28
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. (11251995)
2001
29
Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia. (10633276)
2000
30
Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system. (10690856)
2000
31
Radiologic changes in infancy in McKusick cartilage hair hypoplasia. (10494084)
1999
32
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
33
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. (8777921)
1996
34
Cartilage-hair hypoplasia associated with IgG2 deficiency. (8775556)
1995
35
Locus homogeneity for cartilage-hair hypoplasia proven? (7649562)
1995
36
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. (7977356)
1994
37
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. (7981754)
1993
38
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. (8444246)
1993
39
Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases. (8235252)
1993
40
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. (1404295)
1992
41
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. (1437368)
1992
42
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. (1743218)
1991
43
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
44
Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth. (6984669)
1982
45
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
46
Craniofacial and dental characteristics of cartilage-hair hypoplasia. (272241)
1978
47
Cellular and humoral immmunity in cartilage-hair hypoplasia. (724297)
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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Clinvar genetic disease variations for Cartilage-Hair Hypoplasia:

6 (show all 12)
id Gene Variation 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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Search GEO for disease gene expression data for Cartilage-Hair Hypoplasia.

Pathways for genes affiliated with Cartilage-Hair Hypoplasia

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Pathways related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

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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Biological processes related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tRNA processingGO:00080339.6RPP25, POP5
2RNA catabolic processGO:00064019.4RNASEH2A, RNASEH1
3RNA phosphodiester bond hydrolysisGO:00905019.2RNASEH2A, RNASEH1

Molecular functions related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ribonuclease activityGO:00045409.5RNASEH2A, RNASEH1
2RNA-DNA hybrid ribonuclease activityGO:00045239.4RNASEH2A, RNASEH1
3ribonuclease P activityGO:00045269.3RPP25, POP5

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet