CHH
MCID: CRT002
MIFTS: 59

Cartilage-Hair Hypoplasia (CHH)

Categories: Bone diseases, Cancer diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Cartilage-Hair Hypoplasia

MalaCards integrated aliases for Cartilage-Hair Hypoplasia:

Name: Cartilage-Hair Hypoplasia 57 12 53 25 37 13 55 44 15 40 73
Metaphyseal Chondrodysplasia, Mckusick Type 57 12 25 29 6
Chh 57 53 25
Mckusick Type Metaphyseal Chondrodysplasia 12 76
Mckusick's Metaphyseal Chondrodysplasia Syndrome 25
Metaphyseal Chondrodysplasia, Recessive Type 25
Metaphyseal Chondrodysplasia Mckusick Type 53
Cartilage Hair Hypoplasia Like Syndrome 53
Cartilagehair Hypoplasia 76
Cartilage-Hair Syndrome 25

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cartilage-hair hypoplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cartilage-Hair Hypoplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Cartilage-Hair Hypoplasia, also known as metaphyseal chondrodysplasia, mckusick type, is related to anauxetic dysplasia 1 and pyle disease. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways are Ribosome biogenesis in eukaryotes and Human cytomegalovirus infection. The drugs Tasigna and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related phenotypes are short neck and abnormality of epiphysis morphology

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 : 57 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)

Wikipedia : 76 Cartilage´┐Ż??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 76)
# Related Disease Score Top Affiliating Genes
1 anauxetic dysplasia 1 32.5 POP1 RMRP
2 pyle disease 30.3 COL10A1 POP1 RMRP
3 b-cell lymphomas 29.8 BAX BCL2 FAS
4 lymphoma, non-hodgkin, familial 29.7 BAX BCL2 FAS
5 basal cell carcinoma 29.7 BAX BCL2 FASLG
6 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.6
7 metaphyseal dysplasia without hypotrichosis 12.1
8 chondrodysplasia punctata 2, x-linked dominant 11.1
9 omenn syndrome 11.1
10 lymphoma 10.3
11 combined t cell and b cell immunodeficiency 10.3
12 dwarfism 10.3
13 neutropenia 10.2
14 bronchiectasis 10.2
15 corneal dystrophy, subepithelial mucinous 10.2 COL10A1 RMRP
16 metaphyseal chondrodysplasia, schmid type 10.1 COL10A1 RMRP
17 hirschsprung disease 1 10.1
18 thrombocytopenic purpura, autoimmune 10.1
19 anemia, autoimmune hemolytic 10.1
20 celiac disease 1 10.1
21 lymphoma, hodgkin, classic 10.1
22 wrinkly skin syndrome 10.1
23 basal cell carcinoma 1 10.1
24 diamond-blackfan anemia 10.1
25 diffuse large b-cell lymphoma 10.1
26 hematopoietic stem cell transplantation 10.1
27 hemolytic anemia 10.1
28 lymphomatoid granulomatosis 10.1
29 severe combined immunodeficiency 10.1
30 thrombosis 10.1
31 portal hypertension 10.1
32 hypoparathyroidism 10.1
33 hemosiderosis 10.1
34 dysostosis 10.1
35 dermatitis 10.1
36 bronchiolitis 10.1
37 purpura 10.1
38 hypotrichosis 10.1
39 poliomyelitis 10.1
40 hypersplenism 10.1
41 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.1
42 hypoganglionosis 10.1
43 primary agammaglobulinemia 10.1
44 autoimmune hypoparathyroidism 10.1
45 type ii mixed cryoglobulinemia 10.0 FAS FASLG
46 lymphocytic gastritis 10.0 FAS FASLG
47 lymphomatoid papulosis 10.0 FAS FASLG
48 hypogonadotropic hypogonadism 10.0
49 hypogonadism 10.0
50 hyperglycemia 10.0

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:

57
Abdomen Gastrointestinal:
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 Ribs Sternum 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:

32 (show top 50) (show all 93)
# Description HPO Frequency HPO Source Accession
1 short neck 32 hallmark (90%) HP:0000470
2 abnormality of epiphysis morphology 32 hallmark (90%) HP:0005930
3 muscular hypotonia 32 hallmark (90%) HP:0001252
4 failure to thrive 32 hallmark (90%) HP:0001508
5 respiratory insufficiency 32 hallmark (90%) HP:0002093
6 eeg abnormality 32 hallmark (90%) HP:0002353
7 scoliosis 32 hallmark (90%) HP:0002650
8 hyperlordosis 32 hallmark (90%) HP:0003307
9 large face 32 hallmark (90%) HP:0100729
10 gingival overgrowth 32 frequent (33%) HP:0000212
11 macrotia 32 occasional (7.5%) HP:0000400
12 hepatomegaly 32 occasional (7.5%) HP:0002240
13 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
14 depressed nasal bridge 32 frequent (33%) HP:0005280
15 wide nasal bridge 32 occasional (7.5%) HP:0000431
16 pectus carinatum 32 occasional (7.5%) HP:0000768
17 malabsorption 32 frequent (33%) HP:0002024
18 anteverted nares 32 occasional (7.5%) HP:0000463
19 visual impairment 32 hallmark (90%) HP:0000505
20 abnormality of retinal pigmentation 32 hallmark (90%) HP:0007703
21 mucopolysacchariduria 32 frequent (33%) HP:0008155
22 cognitive impairment 32 occasional (7.5%) HP:0100543
23 brachycephaly 32 occasional (7.5%) HP:0000248
24 prominent forehead 32 frequent (33%) HP:0011220
25 anemia 32 occasional (7.5%) HP:0001903
26 aplasia/hypoplasia of the abdominal wall musculature 32 occasional (7.5%) HP:0010318
27 strabismus 32 hallmark (90%) HP:0000486
28 narrow chest 32 frequent (33%) HP:0000774
29 micromelia 32 hallmark (90%) HP:0002983
30 short palm 32 hallmark (90%) HP:0004279
31 joint hyperflexibility 32 occasional (7.5%) HP:0005692
32 epicanthus 32 occasional (7.5%) HP:0000286
33 short thorax 32 occasional (7.5%) HP:0010306
34 abnormality of the hip bone 32 frequent (33%) HP:0003272
35 diaphyseal thickening 32 hallmark (90%) HP:0005019
36 myopia 32 frequent (33%) HP:0000545
37 cardiomyopathy 32 hallmark (90%) HP:0001638
38 decreased antibody level in blood 32 occasional (7.5%) HP:0004313
39 reduced tendon reflexes 32 frequent (33%) HP:0001315
40 heart block 32 occasional (7.5%) HP:0012722
41 aganglionic megacolon 32 occasional (7.5%) HP:0002251
42 depressed nasal ridge 32 occasional (7.5%) HP:0000457
43 metaphyseal chondrodysplasia 32 hallmark (90%) HP:0005871
44 rhizomelia 32 hallmark (90%) HP:0008905
45 small hand 32 occasional (7.5%) HP:0200055
46 abnormality of the pancreas 32 hallmark (90%) HP:0001732
47 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
48 joint hypermobility 32 HP:0001382
49 lymphopenia 32 HP:0001888
50 abnormality of chromosome stability 32 occasional (7.5%) HP:0003220

MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.63 BAX BCL2 COL10A1 FAS FASLG RPS19
2 limbs/digits/tail MP:0005371 9.26 BAX COL10A1 FAS RPS19
3 neoplasm MP:0002006 8.92 BAX BCL2 FAS FASLG

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Tasigna 18 49 NILOTINIB HYDROCHLORIDE MONOHYDRATE Novartis October 2007

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 29 RMRP

Anatomical Context for Cartilage-Hair Hypoplasia

MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

41
Bone, Skin, T Cells, Heart, Eye, B Cells, Lung

Publications for Cartilage-Hair Hypoplasia

Articles related to Cartilage-Hair Hypoplasia:

(show top 50) (show all 139)
# Title Authors Year
1
Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia. ( 29688570 )
2018
2
Cartilage hair hypoplasia with cutaneous lymphomatoid granulomatosis. ( 29744913 )
2018
3
Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases. ( 29462708 )
2018
4
A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia. ( 30410491 )
2018
5
Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity. ( 30445974 )
2018
6
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia. ( 28631025 )
2017
7
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism. ( 28251002 )
2017
8
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype. ( 28094436 )
2017
9
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. ( 28284971 )
2017
10
Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. ( 28126377 )
2017
11
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. ( 27862957 )
2017
12
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia. ( 27568079 )
2017
13
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family. ( 27740950 )
2016
14
Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report. ( 27270827 )
2016
15
Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 AA >A G Mutation in RMRP Gene. ( 26830278 )
2016
16
Decreased telomere length in children with cartilage-hair hypoplasia. ( 27986801 )
2016
17
Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia - Anauxetic dysplasia spectrum disorder: A coincidental finding? ( 25596067 )
2015
18
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia. ( 26279652 )
2015
19
Cartilage hair hypoplasia: characteristics and orthopaedic manifestations. ( 25764362 )
2015
20
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. ( 24402619 )
2014
21
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. ( 24009312 )
2014
22
Cartilage Hair Hypoplasia: First report from Iran. ( 24791127 )
2013
23
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. ( 24330304 )
2013
24
Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation. ( 23643676 )
2013
25
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
26
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. ( 23949991 )
2013
27
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
28
Hypoplastic anemia in cartilage-hair hypoplasia-balancing between iron overload and chelation. ( 23140882 )
2013
29
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. ( 22987807 )
2012
30
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. ( 21570718 )
2011
31
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. ( 21396580 )
2011
32
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. ( 21813924 )
2011
33
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-╬▒ mAbs. ( 21714993 )
2011
34
Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. ( 20375313 )
2010
35
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
36
Novel mutation in boy with cartilage-hair hypoplasia. ( 21146796 )
2010
37
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. ( 20538026 )
2010
38
Cartilage-hair hypoplasia and severe allergy. ( 19394685 )
2009
39
Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia. ( 19626344 )
2009
40
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. ( 20112607 )
2009
41
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia. ( 19150606 )
2009
42
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. ( 18627050 )
2008
43
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. ( 18280854 )
2008
44
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. ( 18698627 )
2008
45
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. ( 18978468 )
2008
46
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. ( 18540246 )
2008
47
Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly. ( 18164267 )
2008
48
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. ( 18280853 )
2008
49
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. ( 17937437 )
2007
50
Cartilage-hair hypoplasia. ( 17628888 )
2007

Variations for Cartilage-Hair Hypoplasia

ClinVar genetic disease variations for Cartilage-Hair Hypoplasia:

6 (show top 50) (show all 265)
# 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 RMRP: n.71A> G single nucleotide variant Pathogenic rs199476103 GRCh38 Chromosome 9, 35657948: 35657948
3 RMRP NR_003051.3(RMRP): n.263G> T single nucleotide variant Pathogenic rs727502774 GRCh38 Chromosome 9, 35657756: 35657756
4 RMRP NR_003051.3(RMRP): n.263G> T single nucleotide variant Pathogenic rs727502774 GRCh37 Chromosome 9, 35657753: 35657753
5 RMRP NR_003051.3(RMRP): n.-22_-13dupTACTCTGTGA duplication Likely pathogenic rs727502775 GRCh37 Chromosome 9, 35658028: 35658037
6 RMRP NR_003051.3(RMRP): n.-22_-13dupTACTCTGTGA duplication Likely pathogenic rs727502775 GRCh38 Chromosome 9, 35658031: 35658040
7 RMRP NR_003051.3(RMRP): n.-24_-10dupACTACTCTGTGAAGC duplication Likely pathogenic rs727502776 GRCh38 Chromosome 9, 35658028: 35658042
8 RMRP NR_003051.3(RMRP): n.-24_-10dupACTACTCTGTGAAGC duplication Likely pathogenic rs727502776 GRCh37 Chromosome 9, 35658025: 35658039
9 RMRP RMRP, 2-BP DUP, 98TG duplication Pathogenic
10 RMRP NR_003051.3(RMRP): n.-6_-5insCCTGAG insertion Pathogenic rs727502777 GRCh38 Chromosome 9, 35658023: 35658024
11 RMRP NR_003051.3(RMRP): n.-6_-5insCCTGAG insertion Pathogenic rs727502777 GRCh37 Chromosome 9, 35658020: 35658021
12 RMRP NR_003051.3(RMRP): n.-19_-3dup17 duplication Pathogenic rs727502778 GRCh37 Chromosome 9, 35658018: 35658034
13 RMRP NR_003051.3(RMRP): n.-19_-3dup17 duplication Pathogenic rs727502778 GRCh38 Chromosome 9, 35658021: 35658037
14 RMRP RMRP, 193G-A single nucleotide variant Pathogenic
15 RMRP NR_003051.3(RMRP): n.-14_3dup17 duplication Pathogenic rs878853178 GRCh38 Chromosome 9, 35658016: 35658032
16 RMRP NR_003051.3(RMRP): n.-14_3dup17 duplication Pathogenic rs878853178 GRCh37 Chromosome 9, 35658013: 35658029
17 RMRP RMRP, 182G-A single nucleotide variant Pathogenic
18 RMRP NR_003051.3(RMRP): n.195dupT duplication Uncertain significance rs796065036 GRCh37 Chromosome 9, 35657821: 35657821
19 RMRP NR_003051.3(RMRP): n.195dupT duplication Uncertain significance rs796065036 GRCh38 Chromosome 9, 35657824: 35657824
20 RMRP NR_003051.3(RMRP): n.64C> T single nucleotide variant Likely pathogenic rs786204684 GRCh37 Chromosome 9, 35657952: 35657952
21 RMRP NR_003051.3(RMRP): n.64C> T single nucleotide variant Likely pathogenic rs786204684 GRCh38 Chromosome 9, 35657955: 35657955
22 RMRP NR_003051.3(RMRP): n.-19_-13dupTCTGTGA duplication Pathogenic/Likely pathogenic rs727502775 GRCh37 Chromosome 9, 35658028: 35658034
23 RMRP NR_003051.3(RMRP): n.-19_-13dupTCTGTGA duplication Pathogenic/Likely pathogenic rs727502775 GRCh38 Chromosome 9, 35658031: 35658037
24 RMRP NR_003051.3(RMRP): r.146C> T single nucleotide variant Conflicting interpretations of pathogenicity rs757576534 GRCh37 Chromosome 9, 35657870: 35657870
25 RMRP NR_003051.3(RMRP): r.146C> T single nucleotide variant Conflicting interpretations of pathogenicity rs757576534 GRCh38 Chromosome 9, 35657873: 35657873
26 RMRP NR_003051.3(RMRP): r.147G> A single nucleotide variant Pathogenic/Likely pathogenic rs753874439 GRCh37 Chromosome 9, 35657869: 35657869
27 RMRP NR_003051.3(RMRP): r.147G> A single nucleotide variant Pathogenic/Likely pathogenic rs753874439 GRCh38 Chromosome 9, 35657872: 35657872
28 RMRP NR_003051.3(RMRP): n.51C> T single nucleotide variant Conflicting interpretations of pathogenicity rs1064793373 GRCh38 Chromosome 9, 35657968: 35657968
29 RMRP NR_003051.3(RMRP): n.51C> T single nucleotide variant Conflicting interpretations of pathogenicity rs1064793373 GRCh37 Chromosome 9, 35657965: 35657965
30 RMRP NR_003051.3(RMRP): n.148C> T single nucleotide variant Conflicting interpretations of pathogenicity rs1085307765 GRCh37 Chromosome 9, 35657868: 35657868
31 RMRP NR_003051.3(RMRP): n.148C> T single nucleotide variant Conflicting interpretations of pathogenicity rs1085307765 GRCh38 Chromosome 9, 35657871: 35657871
32 RMRP NR_003051.3(RMRP): n.243A> G single nucleotide variant Likely pathogenic rs551450545 GRCh37 Chromosome 9, 35657773: 35657773
33 RMRP NR_003051.3(RMRP): n.243A> G single nucleotide variant Likely pathogenic rs551450545 GRCh38 Chromosome 9, 35657776: 35657776
34 RMRP NR_003051.3(RMRP): n.-7_1dup duplication Likely pathogenic GRCh37 Chromosome 9, 35658015: 35658022
35 RMRP NR_003051.3(RMRP): n.-7_1dup duplication Likely pathogenic GRCh38 Chromosome 9, 35658018: 35658025
36 RMRP NR_003051.3(RMRP): r.-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs555890962 GRCh37 Chromosome 9, 35658019: 35658019
37 RMRP NR_003051.3(RMRP): r.-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs555890962 GRCh38 Chromosome 9, 35658022: 35658022
38 RMRP NR_003051.3(RMRP): n.145C> T single nucleotide variant Uncertain significance rs759632477 GRCh38 Chromosome 9, 35657874: 35657874
39 RMRP NR_003051.3(RMRP): n.145C> T single nucleotide variant Uncertain significance rs759632477 GRCh37 Chromosome 9, 35657871: 35657871
40 RMRP NR_003051.3(RMRP): n.36C> A single nucleotide variant Uncertain significance rs549085067 GRCh38 Chromosome 9, 35657983: 35657983
41 RMRP NR_003051.3(RMRP): n.36C> A single nucleotide variant Uncertain significance rs549085067 GRCh37 Chromosome 9, 35657980: 35657980
42 RMRP NR_003051.3(RMRP): n.244C> T single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 35657775: 35657775
43 RMRP NR_003051.3(RMRP): n.244C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 35657772: 35657772
44 RMRP NR_003051.3(RMRP): n.214C> T single nucleotide variant Uncertain significance rs772665785 GRCh37 Chromosome 9, 35657802: 35657802
45 RMRP NR_003051.3(RMRP): n.214C> T single nucleotide variant Uncertain significance rs772665785 GRCh38 Chromosome 9, 35657805: 35657805
46 RMRP NR_003051.3(RMRP): n.183G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 35657833: 35657833
47 RMRP NR_003051.3(RMRP): n.183G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 35657836: 35657836
48 RMRP NR_003051.3(RMRP): n.180_181dup duplication Uncertain significance GRCh37 Chromosome 9, 35657834: 35657834
49 RMRP NR_003051.3(RMRP): n.180_181dup duplication Uncertain significance GRCh38 Chromosome 9, 35657838: 35657839
50 RMRP NR_003051.3(RMRP): n.153A> C single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 35657863: 35657863

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 KEGG:

37
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

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

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 BAX BCL2 FAS FASLG
2
Show member pathways
12.76 BAX BCL2 FAS FASLG
3
Show member pathways
12.73 BAX BCL2 FAS FASLG
4 12.58 BAX BCL2 FAS FASLG
5
Show member pathways
12.55 BAX BCL2 FAS FASLG
6
Show member pathways
12.43 BAX BCL2 FAS FASLG
7
Show member pathways
12.43 BAX BCL2 FAS FASLG
8
Show member pathways
12.41 BAX BCL2 FAS FASLG
9
Show member pathways
12.17 BAX BCL2 FAS
10 12.09 BAX BCL2 FAS
11
Show member pathways
11.97 BAX BCL2 FAS FASLG
12 11.94 BAX BCL2 FAS FASLG
13
Show member pathways
11.86 BAX BCL2 FAS FASLG
14 11.83 BAX BCL2 FAS
15
Show member pathways
11.83 BAX BCL2 FAS FASLG
16 11.71 BAX BCL2 FASLG
17
Show member pathways
11.38 BAX BCL2 FAS FASLG
18 11.32 BAX BCL2
19 11.3 BAX BCL2
20 11.29 FAS FASLG
21 11.19 FAS FASLG
22
Show member pathways
11.17 BAX BCL2 FAS
23 11.14 BAX BCL2
24 11.12 BAX BCL2 FAS FASLG
25 11.06 BAX BCL2
26 11 BAX BCL2 FASLG
27 10.97 BAX BCL2
29
Show member pathways
10.93 BAX BCL2
30 10.85 BAX BCL2
31 10.77 BAX BCL2 COL10A1 FASLG
32 10.63 BAX BCL2 FAS FASLG
33 10.46 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 8.96 BAX BCL2
2 ribonuclease MRP complex GO:0000172 8.62 POP1 RMRP

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 9.88 BAX BCL2 FAS FASLG
2 positive regulation of apoptotic process GO:0043065 9.83 BAX FAS FASLG
3 regulation of apoptotic process GO:0042981 9.81 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 RNA phosphodiester bond hydrolysis GO:0090501 9.65 POP1 RMRP
7 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.65 BAX FAS FASLG
8 cellular response to organic substance GO:0071310 9.64 BAX BCL2
9 ovarian follicle development GO:0001541 9.64 BAX BCL2
10 neuron apoptotic process GO:0051402 9.63 BAX BCL2
11 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.62 BAX BCL2
12 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.62 FAS FASLG
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 homeostasis of number of cells within a tissue GO:0048873 9.6 BAX BCL2
16 response to gamma radiation GO:0010332 9.59 BAX BCL2
17 regulation of mitochondrial membrane potential GO:0051881 9.58 BAX BCL2
18 negative regulation of apoptotic signaling pathway GO:2001234 9.57 BAX BCL2
19 B cell homeostasis GO:0001782 9.56 BAX BCL2
20 apoptotic mitochondrial changes GO:0008637 9.55 BAX BCL2
21 release of cytochrome c from mitochondria GO:0001836 9.54 BAX BCL2
22 apoptotic signaling pathway GO:0097190 9.54 BAX FAS FASLG
23 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.52 FAS FASLG
24 endoplasmic reticulum calcium ion homeostasis GO:0032469 9.51 BAX BCL2
25 extrinsic apoptotic signaling pathway GO:0097191 9.5 BAX FAS FASLG
26 regulation of protein heterodimerization activity GO:0043497 9.49 BAX BCL2
27 regulation of protein homodimerization activity GO:0043496 9.46 BAX BCL2
28 leukocyte homeostasis GO:0001776 9.43 BAX BCL2
29 necroptotic signaling pathway GO:0097527 9.4 FAS FASLG
30 positive regulation of developmental pigmentation GO:0048087 9.26 BAX BCL2
31 regulation of nitrogen utilization GO:0006808 9.16 BAX BCL2
32 retinal cell programmed cell death GO:0046666 8.96 BAX FASLG
33 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 8.8 BAX BCL2 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 9.16 BAX BCL2
2 BH3 domain binding GO:0051434 8.96 BAX BCL2
3 ribonuclease MRP activity GO:0000171 8.62 POP1 RMRP

Sources for Cartilage-Hair Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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