MCID: CRT002
MIFTS: 53

Cartilage-Hair Hypoplasia malady

Genetic diseases, Rare diseases, Bone diseases categories

Aliases & Classifications for Cartilage-Hair Hypoplasia

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Aliases & Descriptions for Cartilage-Hair Hypoplasia:

Name: Cartilage-Hair Hypoplasia 49 10 11 45 22 23 47 12 65 36
Mckusick's Metaphyseal Chondrodysplasia Syndrome 23 24
Metaphyseal Chondrodysplasia, Mckusick Type 10 23
Metaphyseal Chondrodysplasia Mckusick Type 45 22
Cartilage Hair Hypoplasia Like Syndrome 45 65
 
Chh 45 23
Metaphyseal Chondrodysplasia, Recessive Type 23
Mckusick Type Metaphyseal Chondrodysplasia 10
Cartilage-Hair Syndrome 23


Classifications:



External Ids:

OMIM49 250250
Disease Ontology10 DOID:14773
SNOMED-CT59 7720002, 234421004
MeSH36 C535916
NCIt42 C61245

Summaries for Cartilage-Hair Hypoplasia

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NIH Rare Diseases:45 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 mckusick's metaphyseal chondrodysplasia syndrome, is related to anauxetic dysplasia and cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders, and has symptoms including malar flattening, convex nasal ridge and short neck. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways are African trypanosomiasis and Signal transduction_JNK pathway. Affiliated tissues include bone, skin and t cells, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Genetics Home Reference:23 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:49 Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by... (250250) more...

Related Diseases for Cartilage-Hair Hypoplasia

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Diseases related to Cartilage-Hair Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1anauxetic dysplasia30.9LAMA2, RMRP
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders10.6
3metaphyseal dysplasia without hypotrichosis10.4
4neutropenia10.3
5mckusick type metaphyseal dysplasia10.3
6basal cell carcinoma10.3
7metaphyseal dysplasia10.3
8dwarfism10.3
9thrombocytopenic purpura, autoimmune10.2
10hodgkin lymphoma10.2
11celiac disease10.2
12hirschsprung disease 510.2
13hirschsprung disease 110.2
14wrinkly skin syndrome10.2
15pick disease10.2
16mucopolysaccharidosis iva10.2
17hirschsprung disease 410.2
18cartilage disease10.2
19diamond-blackfan anemia10.2
20hematopoietic stem cell transplantation10.2
21hemolytic anemia10.2
22mucopolysaccharidosis iv10.2
23severe combined immunodeficiency10.2
24cartilage cancer10.2
25gamma chain deficiency10.2
26hypoparathyroidism10.2
27bronchiolitis10.2
28bronchiectasis10.2
29portal hypertension10.2
30herpes zoster10.2
31chickenpox10.2
32hypersplenism10.2
33cork-handlers' disease10.2
34secondary syphilis10.2
35autoimmune hemolytic anemia10.2
36bone cancer10.2
37bone development disease10.2
38bone structure disease10.2
39colonic benign neoplasm10.2
40colonic disease10.2
41dysostosis10.2
42exanthem10.2
43gastrointestinal system disease10.2
44hair disease10.2
45hypotrichosis10.2
46intestinal benign neoplasm10.2
47intestinal disease10.2
48megacolon10.2
49nutritional deficiency disease10.2
50osteochondrodysplasia10.2

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 93)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 convex nasal ridge hallmark (90%) HP:0000444
3 short neck hallmark (90%) HP:0000470
4 strabismus hallmark (90%) HP:0000486
5 visual impairment hallmark (90%) HP:0000505
6 hypermetropia hallmark (90%) HP:0000540
7 blue sclerae hallmark (90%) HP:0000592
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 muscular hypotonia hallmark (90%) HP:0001252
10 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
11 abnormality of the cardiac septa hallmark (90%) HP:0001671
12 abnormality of the pancreas hallmark (90%) HP:0001732
13 respiratory insufficiency hallmark (90%) HP:0002093
14 eeg abnormality hallmark (90%) HP:0002353
15 scoliosis hallmark (90%) HP:0002650
16 tracheal stenosis hallmark (90%) HP:0002777
17 hypocalcemia hallmark (90%) HP:0002901
18 micromelia hallmark (90%) HP:0002983
19 abnormality of the tibia hallmark (90%) HP:0002992
20 short stature hallmark (90%) HP:0004322
21 abnormality of bone mineral density hallmark (90%) HP:0004348
22 multiple enchondromatosis hallmark (90%) HP:0005701
23 abnormality of epiphysis morphology hallmark (90%) HP:0005930
24 bowing of the long bones hallmark (90%) HP:0006487
25 abnormality of retinal pigmentation hallmark (90%) HP:0007703
26 abnormality of the distal phalanx of finger hallmark (90%) HP:0009832
27 spinal dysraphism hallmark (90%) HP:0010301
28 abnormal hair quantity hallmark (90%) HP:0011362
29 abnormal vertebral ossification hallmark (90%) HP:0100569
30 large face hallmark (90%) HP:0100729
31 abnormality of the palate typical (50%) HP:0000174
32 gingival overgrowth typical (50%) HP:0000212
33 micrognathia typical (50%) HP:0000347
34 low-set, posteriorly rotated ears typical (50%) HP:0000368
35 wide nasal bridge typical (50%) HP:0000431
36 myopia typical (50%) HP:0000545
37 narrow chest typical (50%) HP:0000774
38 reduced tendon reflexes typical (50%) HP:0001315
39 frontal bossing typical (50%) HP:0002007
40 malabsorption typical (50%) HP:0002024
41 abnormality of the hip bone typical (50%) HP:0003272
42 depressed nasal bridge typical (50%) HP:0005280
43 mucopolysacchariduria typical (50%) HP:0008155
44 epicanthus occasional (7.5%) HP:0000286
45 macrotia occasional (7.5%) HP:0000400
46 depressed nasal ridge occasional (7.5%) HP:0000457
47 anteverted nares occasional (7.5%) HP:0000463
48 pectus carinatum occasional (7.5%) HP:0000768
49 sacral dimple occasional (7.5%) HP:0000960
50 joint hypermobility occasional (7.5%) HP:0001382
51 hepatomegaly occasional (7.5%) HP:0002240
52 aganglionic megacolon occasional (7.5%) HP:0002251
53 delayed skeletal maturation occasional (7.5%) HP:0002750
54 abnormality of chromosome stability occasional (7.5%) HP:0003220
55 short palm occasional (7.5%) HP:0004279
56 decreased antibody level in blood occasional (7.5%) HP:0004313
57 accelerated skeletal maturation occasional (7.5%) HP:0005616
58 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
59 short thorax occasional (7.5%) HP:0010306
60 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
61 arrhythmia occasional (7.5%) HP:0011675
62 cognitive impairment occasional (7.5%) HP:0100543
63 autosomal recessive inheritance HP:0000007
64 brachycephaly HP:0000248
65 sparse eyebrow HP:0000535
66 sparse eyelashes HP:0000653
67 limited elbow extension HP:0001377
68 joint hypermobility HP:0001382
69 neutropenia HP:0001875
70 lymphopenia HP:0001888
71 macrocytic anemia HP:0001972
72 malabsorption HP:0002024
73 esophageal atresia HP:0002032
74 fine hair HP:0002213
75 aganglionic megacolon HP:0002251
76 fair hair HP:0002286
77 abnormality of pelvic girdle bone morphology HP:0002644
78 scoliosis HP:0002650
79 lymphoma HP:0002665
80 lumbar hyperlordosis HP:0002938
81 metaphyseal widening HP:0003016
82 metaphyseal cupping HP:0003021
83 impaired lymphocyte transformation with phytohemagglutinin HP:0003347
84 short palm HP:0004279
85 congenital hypoplastic anemia HP:0004810
86 susceptibility to chickenpox HP:0005360
87 cellular immunodeficiency HP:0005374
88 flaring of lower rib cage HP:0006589
89 sparse facial hair HP:0007464
90 neoplasm of the skin HP:0008069
91 narrow vertebral interpedicular distance HP:0008450
92 neonatal short-limb short stature HP:0008921
93 metaphyseal dysplasia HP:0100255

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against ChickenpoxEnrolling by invitationNCT02383797Phase 4
2Study of Skeletal Disorders and Short StatureCompletedNCT00001754
3Genetic Studies in the Amish and MennonitesCompletedNCT00359580

Search NIH Clinical Center for Cartilage-Hair Hypoplasia


Cochrane evidence based reviews: 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 Hypoplasia22 RMRP
2 Metaphyseal Chondrodysplasia, Mckusick Type24

Anatomical Context for Cartilage-Hair Hypoplasia

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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

33
Bone, Skin, T cells, Pancreas, Eye, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7BAX, COL10A1, FAS, RPS19
2MP:00053778.4BAX, BCL2, FAS, LAMA2
3MP:00053908.0BAX, COL10A1, FAS, FASLG, LAMA2
4MP:00053797.5BAX, BCL2, FAS, FASLG, LAMA2
5MP:00036317.3BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
6MP:00053897.2BAX, BCL2, FAS, FASLG, LAMA2
7MP:00053877.2BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
8MP:00053976.7BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
9MP:00107686.6BAX, BCL2, COL10A1, FAS, FASLG, LAMA2

Publications for Cartilage-Hair Hypoplasia

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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 122)
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
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. (26279652)
2015
3
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. (25764362)
2015
4
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
5
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
6
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. (24330304)
2013
7
Cartilage Hair Hypoplasia: First report from Iran. (24791127)
2013
8
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
9
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
10
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. (21813924)
2011
11
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
12
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
13
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
14
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
15
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
16
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
17
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
18
Cartilage-hair hypoplasia. (17628888)
2007
19
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (17937437)
2007
20
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
21
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
22
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
2005
23
The natural history of severe anemia in cartilage-hair hypoplasia. (16097009)
2005
24
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). (15125877)
2004
25
Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia. (15167352)
2004
26
Increased mortality in cartilage-hair hypoplasia. (11124791)
2001
27
Hirschsprung disease associated with severe cartilage-hair hypoplasia. (11391344)
2001
28
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
29
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. (11251995)
2001
30
Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia. (10633276)
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 in Finland: epidemiological and genetic aspects of 107 patients. (1404295)
1992
40
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. (1437368)
1992
41
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. (1743218)
1991
42
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
43
Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth. (6984669)
1982
44
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. (7163267)
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:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1RMRPRMRP: n.71A> Gsingle nucleotide variantPathogenicrs199476103GRCh37Chr 9, 35657945: 35657945
2RMRPNM_174923.2(CCDC107): c.-624C> Asingle nucleotide variantPathogenicrs727502774GRCh38Chr 9, 35657756: 35657756
3RMRPNM_174923.2(CCDC107): c.-349_-340dupTCACAGAGTAduplicationPathogenicrs727502775GRCh37Chr 9, 35658028: 35658037
4RMRPNM_174923.2(CCDC107): c.-352_-338dupGCTTCACAGAGTAGTduplicationPathogenicrs727502776GRCh38Chr 9, 35658028: 35658042
5RMRPRMRP, 2-BP DUP, 98TGduplicationPathogenic
6RMRPNM_174923.2(CCDC107): c.-357_-356insCTCAGGinsertionPathogenicrs727502777GRCh38Chr 9, 35658023: 35658024
7RMRPNM_174923.2(CCDC107): c.-359_-343dup17duplicationPathogenicrs727502778GRCh37Chr 9, 35658018: 35658034
8RMRPRMRP, 193G-Asingle nucleotide variantPathogenic
9RMRPRMRP, 17-BP DUP, NT3duplicationPathogenic
10RMRPRMRP, 182G-Asingle nucleotide variantPathogenic
11RMRPNM_174923.2(CCDC107): c.-556dupAduplicationPathogenicrs796065036GRCh37Chr 9, 35657821: 35657821
12RMRPNR_003051.3(RMRP): n.64C> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs786204684GRCh37Chr 9, 35657952: 35657952

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:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FAS, FASLG
29.5FAS, FASLG
39.1BAX, BCL2
4
Show member pathways
9.1BAX, BCL2
59.1BAX, BCL2
69.1BAX, BCL2
79.1BAX, BCL2
89.1BAX, BCL2
9
Show member pathways
9.0BCL2, FAS, FASLG
10
Show member pathways
8.7BAX, BCL2, FAS
118.7BAX, BCL2, FAS
12
Show member pathways
8.7BAX, BCL2, FAS
13
Wnt Signaling Pathway (WikiPathways)
Show member pathways
8.6BAX, BCL2, FAS
148.2BAX, BCL2, FAS, FASLG
15
Apoptosis (KEGG)
Show member pathways
8.2BAX, BCL2, FAS, FASLG
16
Apoptosis (WikiPathways)
Show member pathways
8.2BAX, BCL2, FAS, FASLG
17
Show member pathways
8.2BAX, BCL2, FAS, FASLG
18
Show member pathways
8.2BAX, BCL2, FAS, FASLG
19
Show member pathways
8.2BAX, BCL2, FAS, FASLG
20
Show member pathways
8.2BAX, BCL2, FAS, FASLG
21
TNF Signaling (sino)
Show member pathways
8.2BAX, BCL2, FAS, FASLG
22
Show member pathways
8.2BAX, BCL2, FAS, FASLG
23
Show member pathways
8.2BAX, BCL2, FAS, FASLG
247.8BAX, BCL2, FAS, FASLG, RMRP
257.5BAX, BCL2, FAS, FASLG, LAMA2
26
Show member pathways
7.2BAX, BCL2, COL10A1, FAS, FASLG, LAMA2

GO Terms for genes affiliated with Cartilage-Hair Hypoplasia

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

idNameGO IDScoreTop Affiliating Genes
1pore complexGO:00469309.1BAX, BCL2

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

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1inflammatory cell apoptotic processGO:000692510.2FAS, FASLG
2necroptotic signaling pathwayGO:009752710.2FAS, FASLG
3renal system processGO:000301410.2BCL2, FAS
4regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204110.1FAS, FASLG
5regulation of necrotic cell deathGO:001093910.1FAS, FASLG
6necroptotic processGO:007026610.1FAS, FASLG
7programmed necrotic cell deathGO:009730010.1FAS, FASLG
8spleen developmentGO:004853610.1BCL2, FAS
9T cell homeostasisGO:00430299.9BCL2, FAS
10transformed cell apoptotic processGO:00069279.9BAX, FAS
11regulation of nitrogen utilizationGO:00068089.8BAX, BCL2
12positive regulation of developmental pigmentationGO:00480879.8BAX, BCL2
13retinal cell programmed cell deathGO:00466669.8BAX, FASLG
14regulation of protein homodimerization activityGO:00434969.8BAX, BCL2
15regulation of mitochondrial membrane potentialGO:00518819.7BAX, BCL2
16leukocyte homeostasisGO:00017769.7BAX, BCL2
17B cell homeostasisGO:00017829.7BAX, BCL2
18response to gamma radiationGO:00103329.7BAX, BCL2
19endoplasmic reticulum calcium ion homeostasisGO:00324699.7BAX, BCL2
20release of cytochrome c from mitochondriaGO:00018369.6BAX, BCL2
21regulation of protein heterodimerization activityGO:00434979.6BAX, BCL2
22positive regulation of neuron apoptotic processGO:00435259.6BAX, FASLG
23intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.6BAX, BCL2
24negative regulation of apoptotic signaling pathwayGO:20012349.6BAX, BCL2
25homeostasis of number of cells within a tissueGO:00488739.5BAX, BCL2
26positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:20012419.5BAX, FAS
27intrinsic apoptotic signaling pathwayGO:00971939.5BAX, BCL2
28apoptotic mitochondrial changesGO:00086379.5BAX, BCL2
29cellular response to organic substanceGO:00713109.4BAX, BCL2
30positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.4BAX, BCL2
31ovarian follicle developmentGO:00015419.3BAX, BCL2
32activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00972969.3BAX, FAS, FASLG
33extrinsic apoptotic signaling pathwayGO:00971919.3BAX, FAS, FASLG
34intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:00700599.2BAX, BCL2
35extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.2BAX, BCL2, FAS
36neuron apoptotic processGO:00514029.2BAX, BCL2, FAS
37activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.1BAX, FAS, FASLG
38regulation of apoptotic processGO:00429819.0BAX, BCL2, FAS
39apoptotic signaling pathwayGO:00971909.0BAX, FAS, FASLG
40positive regulation of apoptotic processGO:00430659.0BAX, FAS, FASLG
41extrinsic apoptotic signaling pathway via death domain receptorsGO:00086258.7BAX, BCL2, FAS, FASLG
42response to toxic substanceGO:00096368.4BAX, BCL2, FAS
43programmed cell deathGO:00125018.3BAX, BCL2, FAS, FASLG
44apoptotic processGO:00069158.2BAX, BCL2, FAS, FASLG

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

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:00152679.1BAX, BCL2
2BH3 domain bindingGO:00514348.8BAX, BCL2

Sources for Cartilage-Hair Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet