CHH
MCID: CRT002
MIFTS: 57

Cartilage-Hair Hypoplasia (CHH) 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 52 11 48 24 25 12 50 39 13 68
Metaphyseal Chondrodysplasia, Mckusick Type 11 24 25
Mckusick's Metaphyseal Chondrodysplasia Syndrome 25 27
Chh 48 25
Metaphyseal Chondrodysplasia, Recessive Type 25
 
Metaphyseal Chondrodysplasia Mckusick Type 48
Mckusick Type Metaphyseal Chondrodysplasia 11
Cartilage Hair Hypoplasia Like Syndrome 48
Cartilage-Hair Syndrome 25

Characteristics:

HPO:

64
cartilage-hair hypoplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 250250
Disease Ontology11 DOID:14773
SNOMED-CT62 234421004, 7720002
MeSH39 C535916
NCIt45 C61245

Summaries for Cartilage-Hair Hypoplasia

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NIH Rare Diseases:48 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 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders, and has symptoms including brachycephaly, sparse and thin eyebrow and sparse eyelashes. 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 Synthetic lethal with MLN4924 (a NAE inhibitor) and hearing/vestibular/ear.

Genetics Home Reference:25 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:52 Cartilage-hair hypoplasia is a form of short-limbed dwarfism due to skeletal dysplasia, which was first recognized by... (250250) more...

Wikipedia:71 Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a... 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 54)
idRelated DiseaseScoreTop Affiliating Genes
1anauxetic dysplasia28.6BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders12.4
3metaphyseal dysplasia without hypotrichosis11.6
4omenn syndrome10.8
5chondrodysplasia punctata, x-linked dominant10.8
6charcot-marie-tooth neuropathy x type 510.2LAMA2, RMRP
7ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.2LAMA2, RMRP
8pterygium, antecubital10.2COL10A1, RMRP
913q12.3 microdeletion syndrome10.1BCL2, COL10A1
10orbital margin, hypoplasia of10.1COL10A1, RMRP
11dwarfism10.1
12arterial calcification, generalized, of infancy, 110.1COL10A1, RMRP
13midline interhemispheric variant of holoprosencephaly10.0FAS, FASLG
14skeletal muscle cancer10.0FAS, FASLG
15neutropenia10.0
16lymphoma10.0
17basal cell carcinoma10.0
18bronchiectasis10.0
19macrogyria, pseudobulbar palsy and mental retardation10.0FAS, FASLG
20trabecular follicular adenocarcinoma10.0FAS, FASLG
21kidney disease10.0BAX, BCL2
22pyloric antrum cancer9.9BAX, BCL2
23pseudo-meigs syndrome9.9FAS, FASLG
24congenital absence of thigh and lower leg with foot present, bilateral9.9BAX, BCL2
25thrombocytopenic purpura, autoimmune9.9
26hodgkin lymphoma9.9
27celiac disease9.9
28wrinkly skin syndrome9.9
29diamond-blackfan anemia9.9
30hematopoietic stem cell transplantation9.9
31hemolytic anemia9.9
32severe combined immunodeficiency9.9
33thrombosis9.9
34portal hypertension9.9
35hypoparathyroidism9.9
36dysostosis9.9
37bronchiolitis9.9
38purpura9.9
39hypotrichosis9.9
40poliomyelitis9.9
41hypersplenism9.9
42autoimmune hemolytic anemia9.9
43trichorhinophalangeal syndrome9.9
44hypoganglionosis9.9
45autoimmune hypoparathyroidism9.9
46endocervicitis9.8BAX, BCL2
47gallbladder papillomatosis9.8BAX, BCL2
48hyperparathyroidism, neonatal9.8FAS, FASLG, RPS19
49breast adenomyoepithelioma9.8FAS, FASLG
50chondrocalcinosis9.8BAX, BCL2, FASLG

Graphical network of the top 20 diseases related to Cartilage-Hair Hypoplasia:



Diseases related to cartilage-hair hypoplasia

Symptoms & Phenotypes for Cartilage-Hair Hypoplasia

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Symptoms by clinical synopsis from OMIM:

250250

Clinical features from OMIM:

250250

Human phenotypes related to Cartilage-Hair Hypoplasia:

 64 (show all 90)
id Description HPO Frequency HPO Source Accession
1 brachycephaly64 HP:0000248
2 sparse and thin eyebrow64 HP:0000535
3 sparse eyelashes64 HP:0000653
4 limited elbow extension64 HP:0001377
5 joint hypermobility64 HP:0001382
6 neutropenia64 HP:0001875
7 lymphopenia64 HP:0001888
8 macrocytic anemia64 HP:0001972
9 malabsorption64 HP:0002024
10 esophageal atresia64 HP:0002032
11 fine hair64 HP:0002213
12 aganglionic megacolon64 HP:0002251
13 fair hair64 HP:0002286
14 abnormality of pelvic girdle bone morphology64 HP:0002644
15 scoliosis64 HP:0002650
16 lymphoma64 HP:0002665
17 lumbar hyperlordosis64 HP:0002938
18 metaphyseal widening64 HP:0003016
19 metaphyseal cupping64 HP:0003021
20 impaired lymphocyte transformation with phytohemagglutinin64 HP:0003347
21 short palm64 HP:0004279
22 congenital hypoplastic anemia64 HP:0004810
23 susceptibility to chickenpox64 HP:0005360
24 cellular immunodeficiency64 HP:0005374
25 flaring of lower rib cage64 HP:0006589
26 sparse facial hair64 HP:0007464
27 neoplasm of the skin64 HP:0008069
28 narrow vertebral interpedicular distance64 HP:0008450
29 neonatal short-limb short stature64 HP:0008921
30 metaphyseal dysplasia64 HP:0100255
31 abnormality of the palate64 HP:0000174
32 gingival overgrowth64 HP:0000212
33 epicanthus64 HP:0000286
34 low-set, posteriorly rotated ears64 HP:0000368
35 macrotia64 HP:0000400
36 wide nasal bridge64 HP:0000431
37 convex nasal ridge64 HP:0000444
38 depressed nasal ridge64 HP:0000457
39 anteverted nares64 HP:0000463
40 short neck64 HP:0000470
41 strabismus64 HP:0000486
42 visual impairment64 HP:0000505
43 myopia64 HP:0000545
44 blue sclerae64 HP:0000592
45 pectus carinatum64 HP:0000768
46 narrow chest64 HP:0000774
47 sacral dimple64 HP:0000960
48 muscular hypotonia64 HP:0001252
49 reduced tendon reflexes64 HP:0001315
50 failure to thrive64 HP:0001508
51 cardiomyopathy64 HP:0001638
52 abnormality of the cardiac septa64 HP:0001671
53 abnormality of the pancreas64 HP:0001732
54 anemia64 HP:0001903
55 respiratory insufficiency64 HP:0002093
56 hepatomegaly64 HP:0002240
57 eeg abnormality64 HP:0002353
58 delayed skeletal maturation64 HP:0002750
59 tracheal stenosis64 HP:0002777
60 hypocalcemia64 HP:0002901
61 tibial bowing64 HP:0002982
62 micromelia64 HP:0002983
63 mesomelia64 HP:0003027
64 abnormality of chromosome stability64 HP:0003220
65 abnormality of the hip bone64 HP:0003272
66 hyperlordosis64 HP:0003307
67 decreased antibody level in blood64 HP:0004313
68 biconvex vertebral bodies64 HP:0004625
69 diaphyseal thickening64 HP:0005019
70 depressed nasal bridge64 HP:0005280
71 accelerated skeletal maturation64 HP:0005616
72 joint hyperflexibility64 HP:0005692
73 metaphyseal chondrodysplasia64 HP:0005871
74 abnormality of epiphysis morphology64 HP:0005930
75 abnormality of retinal pigmentation64 HP:0007703
76 aplasia/hypoplasia affecting the eye64 HP:0008056
77 sparse hair64 HP:0008070
78 mucopolysacchariduria64 HP:0008155
79 high-grade hypermetropia64 HP:0008499
80 rhizomelia64 HP:0008905
81 abnormality of the distal phalanx of finger64 HP:0009832
82 spinal dysraphism64 HP:0010301
83 short thorax64 HP:0010306
84 aplasia/hypoplasia of the abdominal wall musculature64 HP:0010318
85 prominent forehead64 HP:0011220
86 heart block64 HP:0012722
87 cognitive impairment64 HP:0100543
88 abnormal vertebral ossification64 HP:0100569
89 large face64 HP:0100729
90 small hand64 HP:0200055

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00250-A-17.5BAX, BCL2, FAS, FASLG, LAMA2

MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9BAX, BCL2, FAS, LAMA2
2MP:00020068.8BAX, BCL2, FAS, FASLG
3MP:00053798.0BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
4MP:00053878.0BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
5MP:00036317.9BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
6MP:00053977.6BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
7MP:00107687.6BAX, BCL2, COL10A1, FAS, FASLG, LAMA2

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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Drugs for Cartilage-Hair Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1VaccinesPhase 46611

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 Type27
2 Cartilage-Hair Hypoplasia24 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

36
Bone, Skin, T cells, Pancreas, Heart, Eye, Bone marrow

Publications for Cartilage-Hair Hypoplasia

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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 133)
idTitleAuthorsYear
1
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. (27862957)
2017
2
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. (28284971)
2017
3
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. (28251002)
2017
4
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. (28094436)
2017
5
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. (28126377)
2017
6
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. (27568079)
2016
7
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 AA >A G Mutation in RMRP Gene. (26830278)
2016
8
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family. (27740950)
2016
9
Decreased telomere length in children with cartilage-hair hypoplasia. (27986801)
2016
10
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. (27270827)
2016
11
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. (26279652)
2015
12
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. (25764362)
2015
13
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
2015
14
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
15
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. (24009312)
2014
16
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. (23140882)
2013
17
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
18
Cartilage Hair Hypoplasia: First report from Iran. (24791127)
2013
19
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
20
Combating cancer predisposition in association with idiopathic immune deficiency: a recurrent nodal and cutaneous T-cell lymphoproliferative disease in a patient with cartilage-hair hypoplasia. (22999941)
2013
21
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. (24330304)
2013
22
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. (23643676)
2013
23
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
24
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
25
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. (21813924)
2011
26
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. (21570718)
2011
27
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
28
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
29
Novel mutation in boy with cartilage-hair hypoplasia. (21146796)
2010
30
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. (20538026)
2010
31
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. (20375313)
2010
32
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. (20112607)
2009
33
Cartilage-hair hypoplasia and severe allergy. (19394685)
2009
34
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. (19150606)
2009
35
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. (19626344)
2009
36
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. (18164267)
2008
37
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
38
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
39
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
40
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
41
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. (18627050)
2008
42
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
43
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (17701897)
2007
44
Cartilage-hair hypoplasia. (17628888)
2007
45
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (17937437)
2007
46
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
47
RMRP mutations in cartilage-hair hypoplasia. (16838329)
2006
48
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. (16832578)
2006
49
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
50
Cartilage hair hypoplasia and multiple basal cell carcinomas. (16428006)
2006

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> GSNVPathogenicrs199476103GRCh37Chr 9, 35657945: 35657945
2RMRPNR_ 003051.3(RMRP): n.263G> TSNVPathogenicrs727502774GRCh38Chr 9, 35657756: 35657756
3RMRPNR_ 003051.3(RMRP): n.-22_ -13dupTACTCTGTGAduplicationPathogenicrs727502775GRCh37Chr 9, 35658028: 35658037
4RMRPNR_ 003051.3(RMRP): n.-24_ -10dupACTACTCTGTGAAGCduplicationPathogenicrs727502776GRCh38Chr 9, 35658028: 35658042
5RMRPRMRP, 2-BP DUP, 98TGduplicationPathogenic
6RMRPNR_ 003051.3(RMRP): n.-6_ -5insCCTGAGinsertionPathogenicrs727502777GRCh38Chr 9, 35658023: 35658024
7RMRPNR_ 003051.3(RMRP): n.-19_ -3dup17duplicationPathogenicrs727502778GRCh37Chr 9, 35658018: 35658034
8RMRPRMRP, 193G-ASNVPathogenic
9RMRPNR_ 003051.3(RMRP): n.-14_ 3dup17duplicationPathogenicrs878853178GRCh38Chr 9, 35658016: 35658032
10RMRPRMRP, 182G-ASNVPathogenic
11RMRPNR_ 003051.3(RMRP): n.195dupTduplicationPathogenicrs796065036GRCh37Chr 9, 35657821: 35657821
12RMRPNR_ 003051.3(RMRP): n.64C> TSNVPathogenic/ Likely 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 30)
idSuper pathwaysScoreTop Affiliating Genes
19.3FAS, FASLG
29.3FAS, FASLG
3
Show member pathways
9.1BAX, BCL2
49.1BAX, BCL2
59.1BAX, BCL2
69.1BAX, BCL2
89.1BAX, BCL2
99.1BAX, BCL2
109.1BAX, BCL2
119.1BAX, BCL2
129.0BCL2, FASLG, LAMA2
13
Show member pathways
8.8BCL2, FAS, FASLG
148.6BAX, BCL2, FASLG
158.6BAX, BCL2, FASLG
168.5BAX, BCL2, FAS
17
Show member pathways
8.5BAX, BCL2, FAS
18
Show member pathways
8.5BAX, BCL2, FAS
19
Show member pathways
8.0BAX, BCL2, FAS, FASLG
20
Show member pathways
8.0BAX, BCL2, FAS, FASLG
218.0BAX, BCL2, FAS, FASLG
22
Show member pathways
8.0BAX, BCL2, FAS, FASLG
238.0BAX, BCL2, FAS, FASLG
24
Show member pathways
8.0BAX, BCL2, FAS, FASLG
25
Show member pathways
8.0BAX, BCL2, FAS, FASLG
268.0BAX, BCL2, FAS, FASLG
27
Show member pathways
8.0BAX, BCL2, FAS, FASLG
28
Show member pathways
8.0BAX, BCL2, FAS, FASLG
297.5BAX, BCL2, FAS, FASLG, LAMA2
30
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 38)
idNameGO IDScoreTop Affiliating Genes
1inflammatory cell apoptotic processGO:000692510.0FAS, FASLG
2necroptotic signaling pathwayGO:009752710.0FAS, FASLG
3negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.0FAS, FASLG
4regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020419.9FAS, FASLG
5renal system processGO:00030149.9BCL2, FAS
6apoptotic mitochondrial changesGO:00086379.9BAX, BCL2
7B cell homeostasisGO:00017829.8BAX, BCL2
8cellular response to organic substanceGO:00713109.8BAX, BCL2
9endoplasmic reticulum calcium ion homeostasisGO:00324699.8BAX, BCL2
10homeostasis of number of cells within a tissueGO:00488739.8BAX, BCL2
11intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:00700599.8BAX, BCL2
12leukocyte homeostasisGO:00017769.8BAX, BCL2
13negative regulation of apoptotic signaling pathwayGO:20012349.8BAX, BCL2
14ovarian follicle developmentGO:00015419.8BAX, BCL2
15positive regulation of developmental pigmentationGO:00480879.8BAX, BCL2
16positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.8BAX, BCL2
17positive regulation of neuron apoptotic processGO:00435259.8BAX, FASLG
18regulation of mitochondrial membrane potentialGO:00518819.7BAX, BCL2
19regulation of nitrogen utilizationGO:00068089.7BAX, BCL2
20regulation of protein heterodimerization activityGO:00434979.7BAX, BCL2
21regulation of protein homodimerization activityGO:00434969.7BAX, BCL2
22spleen developmentGO:00485369.7BCL2, FAS
23release of cytochrome c from mitochondriaGO:00018369.7BAX, BCL2
24response to gamma radiationGO:00103329.7BAX, BCL2
25positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:20012419.7BAX, FAS
26retinal cell programmed cell deathGO:00466669.6BAX, FASLG
27T cell homeostasisGO:00430299.3BCL2, FAS
28activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.3BAX, FAS, FASLG
29activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00972969.3BAX, FAS, FASLG
30apoptotic signaling pathwayGO:00971909.2BAX, FAS, FASLG
31extrinsic apoptotic signaling pathwayGO:00971919.2BAX, FAS, FASLG
32extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.2BAX, BCL2, FAS
33neuron apoptotic processGO:00514029.2BAX, BCL2, FAS
34positive regulation of apoptotic processGO:00430659.2BAX, FAS, FASLG
35regulation of apoptotic processGO:00429819.1BAX, BCL2, FAS
36response to toxic substanceGO:00096369.0BAX, BCL2, FAS
37apoptotic processGO:00069158.7BAX, BCL2, FAS, FASLG
38extrinsic apoptotic signaling pathway via death domain receptorsGO:00086258.7BAX, BCL2, FAS, FASLG

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

idNameGO IDScoreTop Affiliating Genes
1BH3 domain bindingGO:00514349.4BAX, BCL2
2channel activityGO:00152679.1BAX, BCL2

Sources for Cartilage-Hair Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet