MCID: CRT002
MIFTS: 57

Cartilage-Hair Hypoplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

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Aliases & Descriptions for Cartilage-Hair Hypoplasia:

Name: Cartilage-Hair Hypoplasia 50 11 46 23 24 13 12 48 37 66
Metaphyseal Chondrodysplasia, Mckusick Type 11 23 24
Mckusick's Metaphyseal Chondrodysplasia Syndrome 24 25
Chh 46 24
Metaphyseal Chondrodysplasia, Recessive Type 24
 
Mckusick Type Metaphyseal Chondrodysplasia 11
Metaphyseal Chondrodysplasia Mckusick Type 46
Cartilage Hair Hypoplasia Like Syndrome 46
Cartilage-Hair Syndrome 24

Characteristics:

HPO:

62
cartilage-hair hypoplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 250250
Disease Ontology11 DOID:14773
SNOMED-CT60 234421004, 7720002
MeSH37 C535916
NCIt43 C61245

Summaries for Cartilage-Hair Hypoplasia

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NIH Rare Diseases:46 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 metaphyseal dysplasia without hypotrichosis 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:24 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:50 Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by... (250250) more...

Wikipedia:69 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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Diseases related to Cartilage-Hair Hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia without hypotrichosis28.4BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders12.5
3mckusick type metaphyseal dysplasia11.4
4chondrodysplasia punctata, x-linked dominant11.0
5ptosis, strabismus, and ectopic pupils10.4COL10A1, RMRP
6caveolinopathies10.4LAMA2, RMRP
7otosclerosis 810.4LAMA2, RMRP
8anauxetic dysplasia10.3
9neutropenia10.2
10lymphoma10.2
11basal cell carcinoma10.2
12bronchiectasis10.2
13dwarfism10.2
1412p12.1 microdeletion syndrome10.1FAS, FASLG
15pediatric systemic lupus erythematosus10.1FAS, FASLG
16granulomatous gastritis10.1FAS, FASLG
17thrombocytopenic purpura, autoimmune10.0
18hodgkin lymphoma10.0
19celiac disease10.0
20wrinkly skin syndrome10.0
21diamond-blackfan anemia10.0
22hematopoietic stem cell transplantation10.0
23hemolytic anemia10.0
24severe combined immunodeficiency10.0
25portal hypertension10.0
26hypoparathyroidism10.0
27dysostosis10.0
28bronchiolitis10.0
29purpura10.0
30hypotrichosis10.0
31poliomyelitis10.0
32hypersplenism10.0
33autoimmune hemolytic anemia10.0
34hypoganglionosis10.0
35autoimmune hypoparathyroidism10.0
36adrenal cortical adenocarcinoma10.0FAS, FASLG
37steroid dehydrogenase deficiency dental anomalies10.0FAS, FASLG
38omenn syndrome10.0
39benign breast adenomyoepithelioma9.9FAS, FASLG
40mild phosphoribosylpyrophosphate synthetase superactivity9.9BCL2, COL10A1
41adult teratoma9.9BAX, BCL2
42pylorus cancer9.8BAX, BCL2
43congenital sucrase-isomaltase deficiency with minimal starch tolerance9.8BAX, BCL2
44sinusitis9.8FAS, FASLG
45substernal goiter9.8BCL2, FAS
46rheumatic pulmonary valve disease9.8BAX, BCL2
47spondyloarthropathy 19.8FAS, FASLG
48gastrointestinal system cancer9.7BAX, BCL2
49asbestosis9.7FAS, FASLG
50hashimoto thyroiditis9.7FAS, FASLG

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 92)
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 brachycephaly HP:0000248
64 sparse and thin eyebrow HP:0000535
65 sparse eyelashes HP:0000653
66 limited elbow extension HP:0001377
67 joint hypermobility HP:0001382
68 neutropenia HP:0001875
69 lymphopenia HP:0001888
70 macrocytic anemia HP:0001972
71 malabsorption HP:0002024
72 esophageal atresia HP:0002032
73 fine hair HP:0002213
74 aganglionic megacolon HP:0002251
75 fair hair HP:0002286
76 abnormality of pelvic girdle bone morphology HP:0002644
77 scoliosis HP:0002650
78 lymphoma HP:0002665
79 lumbar hyperlordosis HP:0002938
80 metaphyseal widening HP:0003016
81 metaphyseal cupping HP:0003021
82 impaired lymphocyte transformation with phytohemagglutinin HP:0003347
83 short palm HP:0004279
84 congenital hypoplastic anemia HP:0004810
85 susceptibility to chickenpox HP:0005360
86 cellular immunodeficiency HP:0005374
87 flaring of lower rib cage HP:0006589
88 sparse facial hair HP:0007464
89 neoplasm of the skin HP:0008069
90 narrow vertebral interpedicular distance HP:0008450
91 neonatal short-limb short stature HP:0008921
92 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 Metaphyseal Chondrodysplasia, Mckusick Type25
2 Cartilage-Hair Hypoplasia23 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7BAX, COL10A1, FAS, RPS19
2MP:00053778.6BAX, BCL2, FAS, LAMA2
3MP:00020068.3BAX, BCL2, FAS, FASLG
4MP:00053877.6BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
5MP:00053847.5BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
6MP:00036317.1BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
7MP:00053977.0BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
8MP:00053796.9BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
9MP:00107686.7BAX, 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 126)
idTitleAuthorsYear
1
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. (27568079)
2016
2
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
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
Cartilage Hair Hypoplasia: First report from Iran. (24791127)
2013
6
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. (23140882)
2013
7
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. (23643676)
2013
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
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
13
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
14
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. (18164267)
2008
15
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. (18627050)
2008
16
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (17937437)
2007
17
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
18
Cartilage hair hypoplasia and multiple basal cell carcinomas. (16428006)
2006
19
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
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
RMRP mutations in Japanese patients with cartilage-hair hypoplasia. (14608646)
2003
23
Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. (12407544)
2002
24
Increased mortality in cartilage-hair hypoplasia. (11124791)
2001
25
Hirschsprung disease associated with severe cartilage-hair hypoplasia. (11391344)
2001
26
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
27
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. (11251995)
2001
28
Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia. (10633276)
2000
29
Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system. (10690856)
2000
30
Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM *250250) (11043437)
2000
31
Cartilage-hair hypoplasia associated with IgG2 deficiency. (8775556)
1995
32
Early prenatal diagnosis of cartilage-hair hypoplasia (CHH) with polymorphic DNA markers. (7784364)
1995
33
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. (7981754)
1993
34
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. (8444246)
1993
35
Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases. (8235252)
1993
36
Growth in cartilage-hair hypoplasia. (1542548)
1992
37
Anaemia and macrocytosis--unrecognized features in cartilage-hair hypoplasia. (1290847)
1992
38
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. (1743218)
1991
39
Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature. (1789294)
1991
40
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. (2277385)
1990
41
Abnormal elastic tissue in cartilage-hair hypoplasia. (3415286)
1988
42
Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth. (6984669)
1982
43
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
44
Craniofacial and dental characteristics of cartilage-hair hypoplasia. (272241)
1978
45
Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs. (728552)
1978
46
Letter: Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia. (1151542)
1975
47
Cartilage hair hypoplasia in a non-Amish male. (4461092)
1974
48
Biophysical and biochemical studies of the hair in cartilage-hair hypoplasia. (4787841)
1973
49
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. (4188537)
1970
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
9RMRPNG_017041.1: g.4987_5003dup17duplicationPathogenicrs878853178GRCh38Chr 9, 35658016: 35658032
10RMRPRMRP, 182G-Asingle nucleotide variantPathogenic
11RMRPNR_003051.3(RMRP): n.195dupTduplicationPathogenicrs796065036GRCh37Chr 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 28)
idSuper pathwaysScoreTop Affiliating Genes
19.4FAS, FASLG
29.4FAS, FASLG
39.1BAX, BCL2
49.1BAX, BCL2
59.1BAX, BCL2
69.1BAX, BCL2
79.1BAX, BCL2
89.1BAX, BCL2
9
Show member pathways
8.7BAX, BCL2, FAS
10
Show member pathways
8.7BAX, BCL2, FAS
11
Show member pathways
8.7BAX, BCL2, FAS
128.7BAX, BCL2, FAS
13
Show member pathways
8.6BCL2, FAS, FASLG
148.5BCL2, FASLG, LAMA2
158.5BAX, BCL2, FASLG
16
Show member pathways
8.5BAX, BCL2, FASLG
17
Show member pathways
8.1BAX, BCL2, FAS, FASLG
18
Show member pathways
8.1BAX, BCL2, FAS, FASLG
198.1BAX, BCL2, FAS, FASLG
208.1BAX, BCL2, FAS, FASLG
21
Show member pathways
8.1BAX, BCL2, FAS, FASLG
22
Show member pathways
8.1BAX, BCL2, FAS, FASLG
23
Show member pathways
8.1BAX, BCL2, FAS, FASLG
24
Show member pathways
8.1BAX, BCL2, FAS, FASLG
25
Show member pathways
8.1BAX, BCL2, FAS, FASLG
26
Show member pathways
8.1BAX, BCL2, FAS, FASLG
277.5BAX, BCL2, FAS, FASLG, LAMA2
28
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 42)
idNameGO IDScoreTop Affiliating Genes
1regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:004328110.1BAX, FAS
2inflammatory cell apoptotic processGO:000692510.1FAS, FASLG
3necroptotic signaling pathwayGO:009752710.1FAS, FASLG
4obsolete transformed cell apoptotic processGO:000692710.0BAX, FAS
5response to growth factorGO:007084810.0FAS, FASLG
6retinal cell programmed cell deathGO:004666610.0BAX, FASLG
7positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.0BAX, FAS
8regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204110.0FAS, FASLG
9negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.9FAS, FASLG
10renal system processGO:00030149.8BCL2, FAS
11positive regulation of neuron apoptotic processGO:00435259.8BAX, FASLG
12regulation of nitrogen utilizationGO:00068089.8BAX, BCL2
13regulation of protein homodimerization activityGO:00434969.8BAX, BCL2
14positive regulation of developmental pigmentationGO:00480879.8BAX, BCL2
15apoptotic mitochondrial changesGO:00086379.8BAX, BCL2
16leukocyte homeostasisGO:00017769.8BAX, BCL2
17T cell homeostasisGO:00430299.7BCL2, FAS
18endoplasmic reticulum calcium ion homeostasisGO:00324699.7BAX, BCL2
19spleen developmentGO:00485369.7BCL2, FAS
20B cell homeostasisGO:00017829.7BAX, BCL2
21regulation of mitochondrial membrane potentialGO:00518819.7BAX, BCL2
22homeostasis of number of cells within a tissueGO:00488739.7BAX, BCL2
23intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.7BAX, BCL2
24cellular response to organic substanceGO:00713109.7BAX, BCL2
25negative regulation of apoptotic signaling pathwayGO:20012349.6BAX, BCL2
26regulation of protein heterodimerization activityGO:00434979.6BAX, BCL2
27response to gamma radiationGO:00103329.6BAX, BCL2
28activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00972969.5BAX, FAS, FASLG
29ovarian follicle developmentGO:00015419.5BAX, BCL2
30extrinsic apoptotic signaling pathwayGO:00971919.4BAX, FAS, FASLG
31release of cytochrome c from mitochondriaGO:00018369.4BAX, BCL2
32positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.3BAX, BCL2
33intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:00700599.2BAX, BCL2
34activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.2BAX, FAS, FASLG
35extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.2BAX, BCL2, FAS
36apoptotic signaling pathwayGO:00971909.2BAX, FAS, FASLG
37positive regulation of apoptotic processGO:00430659.1BAX, FAS, FASLG
38regulation of apoptotic processGO:00429819.1BAX, BCL2, FAS
39neuron apoptotic processGO:00514029.0BAX, BCL2, FAS
40response to toxic substanceGO:00096368.6BAX, BCL2, FAS
41extrinsic apoptotic signaling pathway via death domain receptorsGO:00086258.4BAX, BCL2, FAS, FASLG
42apoptotic processGO:00069158.1BAX, BCL2, FAS, FASLG

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

idNameGO IDScoreTop Affiliating Genes
1BH3 domain bindingGO:00514349.1BAX, BCL2
2channel activityGO:00152679.1BAX, BCL2

Sources for Cartilage-Hair Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet