MCID: CRT002
MIFTS: 58

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 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
 
Mckusick Type Metaphyseal Chondrodysplasia 11
Metaphyseal Chondrodysplasia Mckusick Type 48
Cartilage Hair Hypoplasia Like Syndrome 48
Mckusick Type Metaphyseal Dysplasia 11
Cartilage-Hair Syndrome 25

Characteristics:

HPO:

64
cartilage-hair hypoplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 250250
Disease Ontology11 DOID:0080022, 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 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 Signal transduction_JNK pathway and African trypanosomiasis. Affiliated tissues include bone, skin and t cells, and related mouse phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and limbs/digits/tail.

Disease Ontology:11 A metaphyseal dysplasia that results in short-limbed dwarfism and fine sparse hair.

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 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 56)
idRelated DiseaseScoreTop Affiliating Genes
1metaphyseal dysplasia without hypotrichosis28.7BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
2cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders12.4
3chondrodysplasia punctata, x-linked dominant11.1
4omenn syndrome10.8
5ptosis, strabismus, and ectopic pupils10.4COL10A1, RMRP
6caveolinopathies10.3LAMA2, RMRP
7otosclerosis 810.3LAMA2, RMRP
8anauxetic dysplasia10.2
9mild phosphoribosylpyrophosphate synthetase superactivity10.1BCL2, COL10A1
1012p12.1 microdeletion syndrome10.1FAS, FASLG
11neutropenia10.0
12lymphoma10.0
13basal cell carcinoma10.0
14bronchiectasis10.0
15dwarfism10.0
16pediatric systemic lupus erythematosus10.0FAS, FASLG
17granulomatous gastritis10.0FAS, FASLG
18substernal goiter10.0BCL2, FAS
19adrenal cortical adenocarcinoma10.0FAS, FASLG
20steroid dehydrogenase deficiency dental anomalies9.9FAS, FASLG
21benign breast adenomyoepithelioma9.9FAS, FASLG
22thrombocytopenic purpura, autoimmune9.9
23hodgkin lymphoma9.9
24celiac disease9.9
25wrinkly skin syndrome9.9
26diamond-blackfan anemia9.9
27hematopoietic stem cell transplantation9.9
28hemolytic anemia9.9
29severe combined immunodeficiency9.9
30portal hypertension9.9
31hypoparathyroidism9.9
32dysostosis9.9
33bronchiolitis9.9
34purpura9.9
35hypotrichosis9.9
36poliomyelitis9.9
37hypersplenism9.9
38autoimmune hemolytic anemia9.9
39hypoganglionosis9.9
40autoimmune hypoparathyroidism9.9
41mantle cell lymphoma9.9BCL2, FAS
42adult teratoma9.8BAX, BCL2
43pylorus cancer9.8BAX, BCL2
44congenital sucrase-isomaltase deficiency with minimal starch tolerance9.8BAX, BCL2
45sinusitis9.8FAS, FASLG
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 & 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 87)
id Description HPO Frequency HPO Source Accession
1 malar flattening64 hallmark (90%) HP:0000272
2 convex nasal ridge64 hallmark (90%) HP:0000444
3 short neck64 hallmark (90%) HP:0000470
4 strabismus64 hallmark (90%) HP:0000486
5 visual impairment64 hallmark (90%) HP:0000505
6 hypermetropia64 hallmark (90%) HP:0000540
7 blue sclerae64 hallmark (90%) HP:0000592
8 brachydactyly syndrome64 hallmark (90%) HP:0001156
9 muscular hypotonia64 hallmark (90%) HP:0001252
10 hypertrophic cardiomyopathy64 hallmark (90%) HP:0001639
11 abnormality of the cardiac septa64 hallmark (90%) HP:0001671
12 abnormality of the pancreas64 hallmark (90%) HP:0001732
13 respiratory insufficiency64 hallmark (90%) HP:0002093
14 eeg abnormality64 hallmark (90%) HP:0002353
15 scoliosis64 hallmark (90%) HP:0002650
16 tracheal stenosis64 hallmark (90%) HP:0002777
17 hypocalcemia64 hallmark (90%) HP:0002901
18 micromelia64 hallmark (90%) HP:0002983
19 abnormality of the tibia64 hallmark (90%) HP:0002992
20 short stature64 hallmark (90%) HP:0004322
21 abnormality of bone mineral density64 hallmark (90%) HP:0004348
22 multiple enchondromatosis64 hallmark (90%) HP:0005701
23 abnormality of epiphysis morphology64 hallmark (90%) HP:0005930
24 bowing of the long bones64 hallmark (90%) HP:0006487
25 abnormality of retinal pigmentation64 hallmark (90%) HP:0007703
26 abnormality of the distal phalanx of finger64 hallmark (90%) HP:0009832
27 spinal dysraphism64 hallmark (90%) HP:0010301
28 abnormal hair quantity64 hallmark (90%) HP:0011362
29 abnormal vertebral ossification64 hallmark (90%) HP:0100569
30 large face64 hallmark (90%) HP:0100729
31 abnormality of the palate64 typical (50%) HP:0000174
32 gingival overgrowth64 typical (50%) HP:0000212
33 micrognathia64 typical (50%) HP:0000347
34 low-set, posteriorly rotated ears64 typical (50%) HP:0000368
35 wide nasal bridge64 typical (50%) HP:0000431
36 myopia64 typical (50%) HP:0000545
37 narrow chest64 typical (50%) HP:0000774
38 reduced tendon reflexes64 typical (50%) HP:0001315
39 frontal bossing64 typical (50%) HP:0002007
40 malabsorption64 typical (50%) HP:0002024
41 abnormality of the hip bone64 typical (50%) HP:0003272
42 depressed nasal bridge64 typical (50%) HP:0005280
43 mucopolysacchariduria64 typical (50%) HP:0008155
44 epicanthus64 occasional (7.5%) HP:0000286
45 macrotia64 occasional (7.5%) HP:0000400
46 depressed nasal ridge64 occasional (7.5%) HP:0000457
47 anteverted nares64 occasional (7.5%) HP:0000463
48 pectus carinatum64 occasional (7.5%) HP:0000768
49 sacral dimple64 occasional (7.5%) HP:0000960
50 joint hypermobility64 occasional (7.5%) HP:0001382
51 hepatomegaly64 occasional (7.5%) HP:0002240
52 aganglionic megacolon64 occasional (7.5%) HP:0002251
53 delayed skeletal maturation64 occasional (7.5%) HP:0002750
54 abnormality of chromosome stability64 occasional (7.5%) HP:0003220
55 short palm64 occasional (7.5%) HP:0004279
56 decreased antibody level in blood64 occasional (7.5%) HP:0004313
57 accelerated skeletal maturation64 occasional (7.5%) HP:0005616
58 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
59 short thorax64 occasional (7.5%) HP:0010306
60 aplasia/hypoplasia of the abdominal wall musculature64 occasional (7.5%) HP:0010318
61 arrhythmia64 occasional (7.5%) HP:0011675
62 cognitive impairment64 occasional (7.5%) HP:0100543
63 brachycephaly64 HP:0000248
64 sparse and thin eyebrow64 HP:0000535
65 sparse eyelashes64 HP:0000653
66 limited elbow extension64 HP:0001377
67 neutropenia64 HP:0001875
68 lymphopenia64 HP:0001888
69 macrocytic anemia64 HP:0001972
70 esophageal atresia64 HP:0002032
71 fine hair64 HP:0002213
72 fair hair64 HP:0002286
73 abnormality of pelvic girdle bone morphology64 HP:0002644
74 lymphoma64 HP:0002665
75 lumbar hyperlordosis64 HP:0002938
76 metaphyseal widening64 HP:0003016
77 metaphyseal cupping64 HP:0003021
78 impaired lymphocyte transformation with phytohemagglutinin64 HP:0003347
79 congenital hypoplastic anemia64 HP:0004810
80 susceptibility to chickenpox64 HP:0005360
81 cellular immunodeficiency64 HP:0005374
82 flaring of lower rib cage64 HP:0006589
83 sparse facial hair64 HP:0007464
84 neoplasm of the skin64 HP:0008069
85 narrow vertebral interpedicular distance64 HP:0008450
86 neonatal short-limb short stature64 HP:0008921
87 metaphyseal dysplasia64 HP:0100255

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:00053719.1BAX, COL10A1, FAS, RPS19
2MP:00053778.9BAX, BCL2, FAS, LAMA2
3MP:00020068.8BAX, BCL2, FAS, FASLG
4MP:00053848.0BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
5MP:00053798.0BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
6MP:00053878.0BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
7MP:00036317.9BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
8MP:00053977.6BAX, BCL2, COL10A1, FAS, FASLG, LAMA2
9MP: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 46428

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, Eye, Bone marrow, B cells

Publications for Cartilage-Hair Hypoplasia

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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 129)
idTitleAuthorsYear
1
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. (27862957)
2017
2
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. (27568079)
2016
3
Decreased telomere length in children with cartilage-hair hypoplasia. (27986801)
2016
4
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. (27270827)
2016
5
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family. (27740950)
2016
6
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 AA >A G Mutation in RMRP Gene. (26830278)
2016
7
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? (25596067)
2015
8
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. (26279652)
2015
9
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. (25764362)
2015
10
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
11
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. (24009312)
2014
12
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
13
Cartilage Hair Hypoplasia: First report from Iran. (24791127)
2013
14
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. (23140882)
2013
15
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. (23643676)
2013
16
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. (24330304)
2013
17
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
18
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
19
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
20
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
21
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. (21570718)
2011
22
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
23
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. (21813924)
2011
24
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
25
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. (20538026)
2010
26
Novel mutation in boy with cartilage-hair hypoplasia. (21146796)
2010
27
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. (20375313)
2010
28
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. (19626344)
2009
29
Cartilage-hair hypoplasia and severe allergy. (19394685)
2009
30
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. (20112607)
2009
31
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. (19150606)
2009
32
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
33
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
34
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. (18164267)
2008
35
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. (18627050)
2008
36
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
37
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
38
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
39
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (17937437)
2007
40
Cartilage-hair hypoplasia. (17628888)
2007
41
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. (17701897)
2007
42
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
43
Cartilage hair hypoplasia and multiple basal cell carcinomas. (16428006)
2006
44
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. (16832578)
2006
45
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
46
RMRP mutations in cartilage-hair hypoplasia. (16838329)
2006
47
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
2005
48
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. (16254002)
2005
49
The natural history of severe anemia in cartilage-hair hypoplasia. (16097009)
2005
50
An effective case of growth hormone treatment on cartilage-hair hypoplasia. (15780958)
2005

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
2RMRPNM_174923.2(CCDC107): c.-624C> ASNVPathogenicrs727502774GRCh38Chr 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, 98TGduplicationPathogenicChr na, -1: -1
6RMRPNM_174923.2(CCDC107): c.-357_-356insCTCAGGinsertionPathogenicrs727502777GRCh38Chr 9, 35658023: 35658024
7RMRPNM_174923.2(CCDC107): c.-359_-343dup17duplicationPathogenicrs727502778GRCh37Chr 9, 35658018: 35658034
8RMRPRMRP, 193G-ASNVPathogenicChr na, -1: -1
9RMRPNG_017041.1: g.4987_5003dup17duplicationPathogenicrs878853178GRCh38Chr 9, 35658016: 35658032
10RMRPRMRP, 182G-ASNVPathogenicChr na, -1: -1
11RMRPNR_003051.3(RMRP): n.195dupTduplicationPathogenicrs796065036GRCh37Chr 9, 35657821: 35657821
12RMRPNR_003051.3(RMRP): n.64C> TSNVLikely 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 25)
idSuper pathwaysScoreTop Affiliating Genes
19.3FAS, FASLG
29.3FAS, FASLG
39.1BAX, BCL2
49.1BAX, BCL2
5
Show member pathways
9.1BAX, BCL2
69.1BAX, BCL2
79.1BAX, BCL2
89.1BAX, BCL2
99.0BCL2, FASLG, LAMA2
10
Show member pathways
8.8BCL2, FAS, FASLG
118.6BAX, BCL2, FASLG
12
Show member pathways
8.5BAX, BCL2, FAS
138.5BAX, BCL2, FAS
14
Show member pathways
8.5BAX, BCL2, FAS
15
Show member pathways
8.5BAX, BCL2, FAS
16
Show member pathways
8.0BAX, BCL2, FAS, FASLG
17
Show member pathways
8.0BAX, BCL2, FAS, FASLG
188.0BAX, BCL2, FAS, FASLG
198.0BAX, BCL2, FAS, FASLG
20
Show member pathways
8.0BAX, BCL2, FAS, FASLG
21
Show member pathways
8.0BAX, BCL2, FAS, FASLG
22
Show member pathways
8.0BAX, BCL2, FAS, FASLG
23
Show member pathways
8.0BAX, BCL2, FAS, FASLG
247.5BAX, BCL2, FAS, FASLG, LAMA2
25
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 41)
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
6response to growth factorGO:00708489.9FAS, FASLG
7apoptotic mitochondrial changesGO:00086379.9BAX, BCL2
8B cell homeostasisGO:00017829.9BAX, BCL2
9cellular response to organic substanceGO:00713109.9BAX, BCL2
10endoplasmic reticulum calcium ion homeostasisGO:00324699.9BAX, BCL2
11homeostasis of number of cells within a tissueGO:00488739.8BAX, BCL2
12intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.8BAX, BCL2
13intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stressGO:00700599.8BAX, BCL2
14leukocyte homeostasisGO:00017769.8BAX, BCL2
15negative regulation of apoptotic signaling pathwayGO:20012349.8BAX, BCL2
16ovarian follicle developmentGO:00015419.8BAX, BCL2
17positive regulation of developmental pigmentationGO:00480879.8BAX, BCL2
18positive regulation of intrinsic apoptotic signaling pathwayGO:20012449.8BAX, BCL2
19positive regulation of neuron apoptotic processGO:00435259.8BAX, FASLG
20regulation of mitochondrial membrane potentialGO:00518819.7BAX, BCL2
21regulation of nitrogen utilizationGO:00068089.7BAX, BCL2
22regulation of protein heterodimerization activityGO:00434979.7BAX, BCL2
23regulation of protein homodimerization activityGO:00434969.7BAX, BCL2
24spleen developmentGO:00485369.7BCL2, FAS
25release of cytochrome c from mitochondriaGO:00018369.7BAX, BCL2
26response to gamma radiationGO:00103329.7BAX, BCL2
27positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:20012419.7BAX, FAS
28regulation of cysteine-type endopeptidase activity involved in apoptotic processGO:00432819.7BAX, FAS
29retinal cell programmed cell deathGO:00466669.6BAX, FASLG
30T cell homeostasisGO:00430299.3BCL2, FAS
31activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069199.3BAX, FAS, FASLG
32activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00972969.3BAX, FAS, FASLG
33apoptotic signaling pathwayGO:00971909.2BAX, FAS, FASLG
34extrinsic apoptotic signaling pathwayGO:00971919.2BAX, FAS, FASLG
35extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.2BAX, BCL2, FAS
36neuron apoptotic processGO:00514029.2BAX, BCL2, FAS
37positive regulation of apoptotic processGO:00430659.2BAX, FAS, FASLG
38regulation of apoptotic processGO:00429819.1BAX, BCL2, FAS
39response to toxic substanceGO:00096369.0BAX, BCL2, FAS
40apoptotic processGO:00069158.7BAX, BCL2, FAS, FASLG
41extrinsic 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