MCID: CRT002
MIFTS: 58

Cartilage-Hair Hypoplasia

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

MalaCards integrated aliases for Cartilage-Hair Hypoplasia:

Name: Cartilage-Hair Hypoplasia 53 12 49 24 36 13 51 41 14 69
Metaphyseal Chondrodysplasia, Mckusick Type 53 12 24 28
Chh 53 49 24
Mckusick Type Metaphyseal Chondrodysplasia 12 72
Mckusick's Metaphyseal Chondrodysplasia Syndrome 24
Metaphyseal Chondrodysplasia, Recessive Type 24
Metaphyseal Chondrodysplasia Mckusick Type 49
Cartilage Hair Hypoplasia Like Syndrome 49
Cartilage-Hair Syndrome 24

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
prevalent in the old order amish in the u.s. and in finland


HPO:

31
cartilage-hair hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cartilage-Hair Hypoplasia

NIH Rare Diseases : 49 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 pyle disease and basal cell carcinoma, and has symptoms including short neck, abnormality of epiphysis morphology and muscular hypotonia. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related phenotypes are hematopoietic system and neoplasm

OMIM : 53 Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. Additional features include ligamentous laxity, defective immunity, hypoplastic anemia, and neuronal dysplasia of the intestine (summary by Ridanpaa et al., 2001). CHH was first recognized by McKusick et al. (1965) in the Old Order Amish, a religious isolate (see also McKusick, 1978), and was later recognized as exceptionally prevalent in the Finnish population (Makitie, 1992). (250250)

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.

Wikipedia : 72 Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare... more...

Related Diseases for Cartilage-Hair Hypoplasia

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 pyle disease 30.5 COL10A1 RMRP
2 basal cell carcinoma 29.5 BAX BCL2 FASLG
3 lymphoma, non-hodgkin, familial 29.1 BAX BCL2 FAS
4 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.4
5 metaphyseal dysplasia without hypotrichosis 11.9
6 anauxetic dysplasia 1 11.4
7 chondrodysplasia punctata 2, x-linked dominant 10.9
8 omenn syndrome 10.9
9 corneal dystrophy, subepithelial mucinous 10.3 COL10A1 RMRP
10 metaphyseal chondrodysplasia, schmid type 10.3 COL10A1 RMRP
11 dwarfism 10.2
12 blood group, i system 10.1
13 combined immunodeficiency, x-linked 10.1
14 basal cell carcinoma 1 10.1
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
16 neutropenia 10.1
17 lymphoma 10.1
18 bronchiectasis 10.1
19 malignant teratoma 10.1 BAX BCL2
20 acute t cell leukemia 10.0 BAX FASLG
21 alk-negative anaplastic large cell lymphoma 10.0 BAX BCL2
22 focal cortical dysplasia, type ii 10.0 BAX BCL2
23 suppressor of tumorigenicity 3 10.0 BAX BCL2
24 gastric lymphoma 10.0 BAX BCL2
25 hirschsprung disease 1 10.0
26 anemia, autoimmune hemolytic 10.0
27 celiac disease 1 10.0
28 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0
29 lymphoma, hodgkin, classic 10.0
30 wrinkly skin syndrome 10.0
31 diamond-blackfan anemia 10.0
32 hematopoietic stem cell transplantation 10.0
33 hemolytic anemia 10.0
34 severe combined immunodeficiency 10.0
35 thrombosis 10.0
36 portal hypertension 10.0
37 hypoparathyroidism 10.0
38 hemosiderosis 10.0
39 dysostosis 10.0
40 bronchiolitis 10.0
41 hypotrichosis 10.0
42 poliomyelitis 10.0
43 hypersplenism 10.0
44 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.0
45 trichorhinophalangeal syndrome 10.0
46 basal cell carcinoma, multiple 10.0
47 hypoganglionosis 10.0
48 autoimmune hypoparathyroidism 10.0
49 chondromyxoid fibroma 10.0 BCL2 COL10A1
50 type ii mixed cryoglobulinemia 9.9 FAS 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

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
malabsorption
esophageal atresia
hirschsprung disease

Immunology:
cellular immunodeficiency
susceptibility to complications from viral infections

Skeletal Limbs:
limited elbow extension
metaphyseal dysplasia
shortened limbs
bowed femurs, mild
tibia shorter than fibula

Skeletal Hands:
short hands
joint hyperextensibility, especially hands, wrist, and feet

Growth Height:
specific growth curves are available
short-limb dwarfism identifiable neonatally
average adult height, 107 to 143 cm
weak or absent pubertal growth spurt

Neoplasia:
increased malignancy risk, especially lymphoma and skin neoplasm

Hematology:
lymphopenia
neutropenia
macrocytic anemia
congenital hypoplastic anemia

Skin Nails Hair Hair:
fine hair
sparse hair
sparse eyelashes
sparse eyebrows
light-colored hair

Head And Neck Head:
normocephaly
brachycephaly (in some patients)

Skeletal Spine:
lumbar lordosis
odontoid hypoplasia, mild (in some patients)
narrowing of interpediculate distances
scoliosis, mild

Chest RibsSternum Clavicles And Scapulae:
anterior angulation of sternum
flaring of lower rib cage

Laboratory Abnormalities:
diminished lymphocyte response to phytohemagglutinin


Clinical features from OMIM:

250250

Human phenotypes related to Cartilage-Hair Hypoplasia:

31 (show top 50) (show all 92)
# Description HPO Frequency HPO Source Accession
1 short neck 31 hallmark (90%) HP:0000470
2 abnormality of epiphysis morphology 31 hallmark (90%) HP:0005930
3 muscular hypotonia 31 hallmark (90%) HP:0001252
4 failure to thrive 31 hallmark (90%) HP:0001508
5 respiratory insufficiency 31 hallmark (90%) HP:0002093
6 eeg abnormality 31 hallmark (90%) HP:0002353
7 scoliosis 31 hallmark (90%) HP:0002650
8 hyperlordosis 31 hallmark (90%) HP:0003307
9 large face 31 hallmark (90%) HP:0100729
10 gingival overgrowth 31 frequent (33%) HP:0000212
11 macrotia 31 occasional (7.5%) HP:0000400
12 hepatomegaly 31 occasional (7.5%) HP:0002240
13 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
14 depressed nasal bridge 31 frequent (33%) HP:0005280
15 wide nasal bridge 31 occasional (7.5%) HP:0000431
16 pectus carinatum 31 occasional (7.5%) HP:0000768
17 malabsorption 31 frequent (33%) HP:0002024
18 anteverted nares 31 occasional (7.5%) HP:0000463
19 visual impairment 31 hallmark (90%) HP:0000505
20 abnormality of retinal pigmentation 31 hallmark (90%) HP:0007703
21 mucopolysacchariduria 31 frequent (33%) HP:0008155
22 cognitive impairment 31 occasional (7.5%) HP:0100543
23 brachycephaly 31 occasional (7.5%) HP:0000248
24 prominent forehead 31 frequent (33%) HP:0011220
25 anemia 31 occasional (7.5%) HP:0001903
26 aplasia/hypoplasia of the abdominal wall musculature 31 occasional (7.5%) HP:0010318
27 strabismus 31 hallmark (90%) HP:0000486
28 narrow chest 31 frequent (33%) HP:0000774
29 micromelia 31 hallmark (90%) HP:0002983
30 short palm 31 hallmark (90%) HP:0004279
31 joint hyperflexibility 31 occasional (7.5%) HP:0005692
32 epicanthus 31 occasional (7.5%) HP:0000286
33 short thorax 31 occasional (7.5%) HP:0010306
34 abnormality of the hip bone 31 frequent (33%) HP:0003272
35 diaphyseal thickening 31 hallmark (90%) HP:0005019
36 myopia 31 frequent (33%) HP:0000545
37 cardiomyopathy 31 hallmark (90%) HP:0001638
38 decreased antibody level in blood 31 occasional (7.5%) HP:0004313
39 reduced tendon reflexes 31 frequent (33%) HP:0001315
40 heart block 31 occasional (7.5%) HP:0012722
41 aganglionic megacolon 31 occasional (7.5%) HP:0002251
42 depressed nasal ridge 31 occasional (7.5%) HP:0000457
43 metaphyseal chondrodysplasia 31 hallmark (90%) HP:0005871
44 rhizomelia 31 hallmark (90%) HP:0008905
45 small hand 31 occasional (7.5%) HP:0200055
46 abnormality of the pancreas 31 hallmark (90%) HP:0001732
47 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
48 joint hypermobility 31 HP:0001382
49 lymphopenia 31 HP:0001888
50 abnormality of chromosome stability 31 occasional (7.5%) HP:0003220

MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 BAX BCL2 COL10A1 FAS FASLG RPS19
2 neoplasm MP:0002006 8.92 BAX BCL2 FAS FASLG

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
2 Study of Skeletal Disorders and Short Stature Completed NCT00001754
3 Genetic Studies in the Amish and Mennonites Completed NCT00359580

Search NIH Clinical Center for Cartilage-Hair Hypoplasia

Cochrane evidence based reviews: cartilage-hair hypoplasia

Genetic Tests for Cartilage-Hair Hypoplasia

Genetic tests related to Cartilage-Hair Hypoplasia:

# Genetic test Affiliating Genes
1 Metaphyseal Chondrodysplasia, Mckusick Type 28 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

38
Bone, Skin, T Cells, Heart, Eye, Pancreas, Bone Marrow

Publications for Cartilage-Hair Hypoplasia

Articles related to Cartilage-Hair Hypoplasia:

(show top 50) (show all 133)
# Title Authors Year
1
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia. ( 28631025 )
2017
2
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. ( 28094436 )
2017
3
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. ( 27862957 )
2017
4
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. ( 28251002 )
2017
5
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. ( 28284971 )
2017
6
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. ( 28126377 )
2017
7
Decreased telomere length in children with cartilage-hair hypoplasia. ( 27986801 )
2016
8
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family. ( 27740950 )
2016
9
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. ( 27270827 )
2016
10
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. ( 27568079 )
2016
11
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 AA >A G Mutation in RMRP Gene. ( 26830278 )
2016
12
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. ( 26279652 )
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: characteristics and orthopaedic manifestations. ( 25764362 )
2015
15
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. ( 24402619 )
2014
16
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. ( 24009312 )
2014
17
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. ( 23643676 )
2013
18
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. ( 23140882 )
2013
19
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. ( 24330304 )
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
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
22
Cartilage Hair Hypoplasia: First report from Iran. ( 24791127 )
2013
23
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. ( 23949991 )
2013
24
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. ( 22987807 )
2012
25
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. ( 21396580 )
2011
26
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. ( 21813924 )
2011
27
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. ( 21570718 )
2011
28
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. ( 21714993 )
2011
29
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
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
Novel mutation in boy with cartilage-hair hypoplasia. ( 21146796 )
2010
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
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. ( 20112607 )
2009
36
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. ( 19626344 )
2009
37
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. ( 18627050 )
2008
38
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. ( 18280854 )
2008
39
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. ( 18280853 )
2008
40
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. ( 18540246 )
2008
41
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. ( 18978468 )
2008
42
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. ( 18698627 )
2008
43
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. ( 18164267 )
2008
44
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. ( 17701897 )
2007
45
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. ( 17937437 )
2007
46
Cartilage-hair hypoplasia. ( 17628888 )
2007
47
Bone marrow transplantation for cartilage-hair-hypoplasia. ( 17041608 )
2006
48
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. ( 17015150 )
2006
49
Cartilage hair hypoplasia and multiple basal cell carcinomas. ( 16428006 )
2006
50
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. ( 16832578 )
2006

Variations for Cartilage-Hair Hypoplasia

ClinVar genetic disease variations for Cartilage-Hair Hypoplasia:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 RMRP RMRP: n.71A> G single nucleotide variant Pathogenic rs199476103 GRCh37 Chromosome 9, 35657945: 35657945
2 RMRP NR_003051.3(RMRP): n.263G> T single nucleotide variant Pathogenic rs727502774 GRCh38 Chromosome 9, 35657756: 35657756
3 RMRP NR_003051.3(RMRP): n.-22_-13dupTACTCTGTGA duplication Pathogenic rs727502775 GRCh37 Chromosome 9, 35658028: 35658037
4 RMRP NR_003051.3(RMRP): n.-24_-10dupACTACTCTGTGAAGC duplication Pathogenic rs727502776 GRCh38 Chromosome 9, 35658028: 35658042
5 RMRP RMRP, 2-BP DUP, 98TG duplication Pathogenic
6 RMRP NR_003051.3(RMRP): n.-6_-5insCCTGAG insertion Pathogenic rs727502777 GRCh38 Chromosome 9, 35658023: 35658024
7 RMRP NR_003051.3(RMRP): n.-19_-3dup17 duplication Pathogenic rs727502778 GRCh37 Chromosome 9, 35658018: 35658034
8 RMRP RMRP, 193G-A single nucleotide variant Pathogenic
9 RMRP NR_003051.3(RMRP): n.-14_3dup17 duplication Pathogenic rs878853178 GRCh38 Chromosome 9, 35658016: 35658032
10 RMRP RMRP, 182G-A single nucleotide variant Pathogenic
11 RMRP NR_003051.3(RMRP): n.64C> T single nucleotide variant Pathogenic/Likely pathogenic rs786204684 GRCh37 Chromosome 9, 35657952: 35657952
12 RMRP NR_003051.3(RMRP): n.243A> G single nucleotide variant Likely pathogenic rs551450545 GRCh37 Chromosome 9, 35657773: 35657773
13 RMRP NR_003051.3(RMRP): n.-7_1dup duplication Likely pathogenic GRCh37 Chromosome 9, 35658015: 35658022

Expression for Cartilage-Hair Hypoplasia

Search GEO for disease gene expression data for Cartilage-Hair Hypoplasia.

Pathways for Cartilage-Hair Hypoplasia

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 BAX BCL2 COL10A1 FAS FASLG IL11RA
2
Show member pathways
13.41 BAX BCL2 FAS FASLG IL11RA
3
Show member pathways
13.18 BAX BCL2 FAS FASLG IL11RA
4
Show member pathways
13.04 BAX BCL2 FAS FASLG IL11RA
5
Show member pathways
12.77 BAX BCL2 FAS FASLG
6
Show member pathways
12.64 BAX BCL2 FAS FASLG
7 12.61 BAX BCL2 FAS FASLG
8
Show member pathways
12.57 BAX BCL2 FAS FASLG
9
Show member pathways
12.46 BAX BCL2 FAS FASLG
10
Show member pathways
12.3 BAX BCL2 FAS FASLG
11
Show member pathways
12.03 BAX BCL2 IL11RA
12
Show member pathways
11.99 BAX BCL2 FAS FASLG
13
Show member pathways
11.98 BAX BCL2 FAS FASLG
14 11.94 BAX BCL2 FAS FASLG
15
Show member pathways
11.87 BAX BCL2 FAS FASLG
16 11.84 BAX BCL2 FAS
17 11.83 BAX BCL2 FAS
18 11.75 BAX BCL2 FASLG
19
Show member pathways
11.38 BAX BCL2 FAS FASLG
20 11.33 BAX BCL2
21 11.31 BAX BCL2
22 11.3 BCL2 IL11RA
23 11.3 FAS FASLG
24 11.19 FAS FASLG
25
Show member pathways
11.19 BAX BCL2 FAS
26 11.15 BAX BCL2
27 11.12 BAX BCL2 FAS FASLG
28 11.08 BAX BCL2
29 11.03 BAX BCL2 FASLG
30 10.99 BAX BCL2
31
Show member pathways
10.99 BCL2 FAS FASLG
33
Show member pathways
10.95 BAX BCL2
34 10.87 BAX BCL2
35 10.8 BAX BCL2 COL10A1 FASLG
36 10.63 BAX BCL2 FAS FASLG
37 10.49 BAX BCL2

GO Terms for Cartilage-Hair Hypoplasia

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

# Name GO ID Score Top Affiliating Genes
1 pore complex GO:0046930 8.62 BAX BCL2

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.89 BAX BCL2 FAS FASLG
2 positive regulation of apoptotic process GO:0043065 9.83 BAX FAS FASLG
3 regulation of apoptotic process GO:0042981 9.82 BAX BCL2 FAS
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.65 BAX BCL2
5 positive regulation of neuron apoptotic process GO:0043525 9.65 BAX FASLG
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.65 BAX FAS FASLG
7 ovarian follicle development GO:0001541 9.64 BAX BCL2
8 neuron apoptotic process GO:0051402 9.64 BAX BCL2
9 cellular response to organic substance GO:0071310 9.63 BAX BCL2
10 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.63 FAS FASLG
11 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.62 BAX BCL2
12 response to gamma radiation GO:0010332 9.62 BAX BCL2
13 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.61 BAX BCL2
14 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.61 BAX BCL2
15 apoptotic signaling pathway GO:0097190 9.61 BAX FAS FASLG
16 regulation of mitochondrial membrane potential GO:0051881 9.6 BAX BCL2
17 homeostasis of number of cells within a tissue GO:0048873 9.58 BAX BCL2
18 apoptotic mitochondrial changes GO:0008637 9.58 BAX BCL2
19 release of cytochrome c from mitochondria GO:0001836 9.57 BAX BCL2
20 B cell homeostasis GO:0001782 9.56 BAX BCL2
21 negative regulation of apoptotic signaling pathway GO:2001234 9.55 BAX BCL2
22 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.54 FAS FASLG
23 extrinsic apoptotic signaling pathway GO:0097191 9.54 BAX FAS FASLG
24 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.52 BAX BCL2
25 regulation of protein heterodimerization activity GO:0043497 9.51 BAX BCL2
26 regulation of protein homodimerization activity GO:0043496 9.49 BAX BCL2
27 necroptotic signaling pathway GO:0097527 9.46 FAS FASLG
28 leukocyte homeostasis GO:0001776 9.4 BAX BCL2
29 retinal cell programmed cell death GO:0046666 9.32 BAX FASLG
30 regulation of nitrogen utilization GO:0006808 9.26 BAX BCL2
31 positive regulation of developmental pigmentation GO:0048087 9.16 BAX BCL2
32 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.13 BAX BCL2 FASLG
33 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 8.8 BAX FAS FASLG

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

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 8.96 BAX BCL2
2 BH3 domain binding GO:0051434 8.62 BAX BCL2

Sources for Cartilage-Hair Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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