CHH
MCID: CRT002
MIFTS: 60

Cartilage-Hair Hypoplasia (CHH) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases, Blood diseases categories
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Summaries for Cartilage-Hair Hypoplasia

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NIH Rare Diseases:42 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 metaphyseal dysplasia, and has symptoms including large face, depressed premaxillary region/midface and blue sclerae. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA component of mitochondrial RNA processing endoribonuclease), and among its related pathways are DNA strand elongation and ERK Signaling. The compound anaphylatoxin have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and b cells, and related mouse phenotypes are hematopoietic system and mortality/aging.

Genetics Home Reference:21 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:65 Cartilage?hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia, is a rare... more...

Description from OMIM:46 250250

Aliases & Classifications for Cartilage-Hair Hypoplasia

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 22GTR, 57SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cartilage-Hair Hypoplasia, Aliases & Descriptions:

Name: Cartilage-Hair Hypoplasia 8 9 42 20 21 46 10 44 48 62
Metaphyseal Chondrodysplasia, Mckusick Type 8 21 48 62
Metaphyseal Chondrodysplasia Mckusick Type 42 22
Cartilage Hair Hypoplasia Like Syndrome 42 62
Chh 42 21
Mckusick's Metaphyseal Chondrodysplasia Syndrome 21
 
Autosomal Recessive Metaphyseal Chondrodysplasia 48
Metaphyseal Chondrodysplasia, Recessive Type 21
Mckusick Type Metaphyseal Chondrodysplasia 8
Cartilage-Hair Syndrome 21
Cartilage Hair Syndrome 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
cartilage-hair hypoplasia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology8 DOID:14773
OMIM46 250250
NCIt39 C61245
MeSH34 C535916
SNOMED-CT57 7720002, 234421004
MESH via Orphanet35 C535916
ICD10 via Orphanet26 Q78.8
UMLS via Orphanet63 C0220748

Related Diseases for Cartilage-Hair Hypoplasia

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



Diseases related to cartilage-hair hypoplasia

Symptoms for Cartilage-Hair Hypoplasia

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Symptoms by clinical synopsis from OMIM:

250250

Clinical features from OMIM:

250250

Symptoms:

48 (show all 84)
  • large face
  • depressed premaxillary region/midface
  • blue sclerae
  • retinitis pigmentosa/retinal pigmentary changes
  • visual loss/blindness/amblyopia
  • hypermetropia
  • strabismus/squint
  • absent/decreased/thin eyebrows
  • beaked nose
  • short neck
  • lordosis
  • scoliosis
  • abnormal vertebral size/shape
  • lack/delayed ossification of spine/vertebrae
  • short limbs/micromelia/brachymelia
  • rhizomelic micromelia
  • mesomelic micromelia
  • short hand/brachydactyly
  • spindle shaped fingers
  • terminal/third phalangeal bone of fingers broadened/deviated
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • structural anomalies of the pancreas
  • tracheal atresia/stenosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cardiac septal defect
  • cardiomyopathy/hypertrophic/dilated
  • neural tube defect
  • eeg anomalies
  • hypotonia
  • anomalies of bones/skeletal anomalies
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • abnormal/absent ossification
  • enchondroses
  • metaphyseal anomaly
  • epiphyseal anomaly
  • diaphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • enlarged diaphysis/diaphyses
  • restricted joint mobility/joint stiffness/ankylosis
  • polynuclear cells/neutrophils anomalies/neutropenia
  • hypocalcemia
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • stillbirth/neonatal death
  • frontal bossing/prominent forehead
  • micrognathia/retrognathia/micrognathism/retrognathism
  • myopia
  • depressed nasal bridge
  • broad nasal root
  • thickened/hypertrophic/fibromatous gingivae
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • narrow rib cage/thorax
  • rib structure anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • areflexia/hyporeflexia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • mucopolysacchariduria
  • brachycephaly/flat occiput
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • epicanthic folds
  • broad nose/nasal bridge
  • flattened nose
  • anteverted nares/nostrils
  • long/large ear
  • short rib cage/thorax
  • pectus carinatum
  • anomalies of the ribs
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • sacral sinus/dimple
  • absent/hypotonic/flaccid abdominal wall muscles
  • small hand/acromicria
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • hepatomegaly/liver enlargement (excluding storage disease)
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • advanced bone age
  • hyperextensible joints/articular hyperlaxity
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • anaemia
  • chromosome breakage

HPO human phenotypes related to Cartilage-Hair Hypoplasia:

(show all 102)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 convex nasal ridge hallmark (90%) HP:0000444
3 short neck hallmark (90%) HP:0000470
4 strabismus hallmark (90%) HP:0000486
5 visual impairment hallmark (90%) HP:0000505
6 hypermetropia hallmark (90%) HP:0000540
7 blue sclerae hallmark (90%) HP:0000592
8 abnormality of the metaphyses hallmark (90%) HP:0000944
9 brachydactyly syndrome hallmark (90%) HP:0001156
10 muscular hypotonia hallmark (90%) HP:0001252
11 limitation of joint mobility hallmark (90%) HP:0001376
12 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
13 abnormality of the cardiac septa hallmark (90%) HP:0001671
14 abnormality of the pancreas hallmark (90%) HP:0001732
15 abnormality of neutrophils hallmark (90%) HP:0001874
16 respiratory insufficiency hallmark (90%) HP:0002093
17 eeg abnormality hallmark (90%) HP:0002353
18 scoliosis hallmark (90%) HP:0002650
19 skeletal dysplasia hallmark (90%) HP:0002652
20 tracheal stenosis hallmark (90%) HP:0002777
21 hypocalcemia hallmark (90%) HP:0002901
22 micromelia hallmark (90%) HP:0002983
23 abnormality of the tibia hallmark (90%) HP:0002992
24 hyperlordosis hallmark (90%) HP:0003307
25 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
26 short stature hallmark (90%) HP:0004322
27 abnormality of bone mineral density hallmark (90%) HP:0004348
28 multiple enchondromatosis hallmark (90%) HP:0005701
29 abnormality of the epiphyses hallmark (90%) HP:0005930
30 bowing of the long bones hallmark (90%) HP:0006487
31 abnormal retinal pigmentation hallmark (90%) HP:0007703
32 abnormality of the distal phalanx of finger hallmark (90%) HP:0009832
33 spinal dysraphism hallmark (90%) HP:0010301
34 abnormal hair quantity hallmark (90%) HP:0011362
35 abnormal vertebral ossification hallmark (90%) HP:0100569
36 large face hallmark (90%) HP:0100729
37 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
38 abnormality of the palate typical (50%) HP:0000174
39 gingival overgrowth typical (50%) HP:0000212
40 micrognathia typical (50%) HP:0000347
41 low-set, posteriorly rotated ears typical (50%) HP:0000368
42 wide nasal bridge typical (50%) HP:0000431
43 myopia typical (50%) HP:0000545
44 abnormality of the ribs typical (50%) HP:0000772
45 narrow chest typical (50%) HP:0000774
46 reduced tendon reflexes typical (50%) HP:0001315
47 frontal bossing typical (50%) HP:0002007
48 malabsorption typical (50%) HP:0002024
49 abnormality of the hip bone typical (50%) HP:0003272
50 depressed nasal bridge typical (50%) HP:0005280
51 mucopolysacchariduria typical (50%) HP:0008155
52 epicanthus occasional (7.5%) HP:0000286
53 macrotia occasional (7.5%) HP:0000400
54 depressed nasal ridge occasional (7.5%) HP:0000457
55 anteverted nares occasional (7.5%) HP:0000463
56 pectus carinatum occasional (7.5%) HP:0000768
57 abnormality of the ribs occasional (7.5%) HP:0000772
58 sacral dimple occasional (7.5%) HP:0000960
59 joint hypermobility occasional (7.5%) HP:0001382
60 anemia occasional (7.5%) HP:0001903
61 hepatomegaly occasional (7.5%) HP:0002240
62 aganglionic megacolon occasional (7.5%) HP:0002251
63 delayed skeletal maturation occasional (7.5%) HP:0002750
64 abnormality of chromosome stability occasional (7.5%) HP:0003220
65 short palm occasional (7.5%) HP:0004279
66 hypogammaglobulinemia occasional (7.5%) HP:0004313
67 accelerated skeletal maturation occasional (7.5%) HP:0005616
68 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
69 short thorax occasional (7.5%) HP:0010306
70 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
71 arrhythmia occasional (7.5%) HP:0011675
72 cognitive impairment occasional (7.5%) HP:0100543
73 autosomal recessive inheritance HP:0000007
74 brachycephaly HP:0000248
75 sparse eyebrow HP:0000535
76 sparse eyelashes HP:0000653
77 limited elbow extension HP:0001377
78 joint hypermobility HP:0001382
79 neutropenia HP:0001875
80 lymphopenia HP:0001888
81 macrocytic anemia HP:0001972
82 malabsorption HP:0002024
83 esophageal atresia HP:0002032
84 fine hair HP:0002213
85 aganglionic megacolon HP:0002251
86 fair hair HP:0002286
87 abnormality of pelvic girdle bone morphology HP:0002644
88 scoliosis HP:0002650
89 lymphoma HP:0002665
90 lumbar hyperlordosis HP:0002938
91 impaired lymphocyte transformation with phytohemagglutinin HP:0003347
92 short palm HP:0004279
93 congenital hemolytic anemia HP:0004804
94 congenital hypoplastic anemia HP:0004810
95 susceptibility to chickenpox HP:0005360
96 cellular immunodeficiency HP:0005374
97 flaring of lower rib cage HP:0006589
98 sparse facial hair HP:0007464
99 neoplasm of the skin HP:0008069
100 narrow vertebral interpedicular distance HP:0008450
101 neonatal short-limb short stature HP:0008921
102 metaphyseal dysplasia HP:0100255

Drugs & Therapeutics for Cartilage-Hair Hypoplasia

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Drug clinical trials:

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Search NIH Clinical Center for 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 Cartilage-Hair Hypoplasia20 RMRP
2 Metaphyseal Chondrodysplasia, Mckusick Type22

Anatomical Context for Cartilage-Hair Hypoplasia

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MalaCards organs/tissues related to Cartilage-Hair Hypoplasia:

32
Bone, Skin, B cells, T cells, Heart, Liver, Lung, Pancreas, Neutrophil, Bone marrow

Animal Models for Cartilage-Hair Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Cartilage-Hair Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2COL10A1, RPS19, IL11RA, CCNB2, CCL2, LAMA2
2MP:00107687.0RMRP, LAMA2, RNASEH1, CCL2, CCNB2, IL11RA

Publications for Cartilage-Hair Hypoplasia

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Articles related to Cartilage-Hair Hypoplasia:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. (24402619)
2014
2
Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype. (23949991)
2013
3
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. (24330304)
2013
4
Cartilage Hair Hypoplasia: First report from Iran. (24791127)
2013
5
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature. (22987807)
2012
6
The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. (21396580)
2011
7
Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. (21813924)
2011
8
Granulomatous inflammation in cartilage-hair hypoplasia: risks and benefits of anti-TNF-I+ mAbs. (21714993)
2011
9
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
10
Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. (18978468)
2008
11
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia. (18280854)
2008
12
Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)
2008
13
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma. (18698627)
2008
14
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis. (18280853)
2008
15
Cartilage-hair hypoplasia. (17628888)
2007
16
Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. (17937437)
2007
17
Bone marrow transplantation for cartilage-hair-hypoplasia. (17041608)
2006
18
A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. (17015150)
2006
19
Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results. (16088923)
2005
20
The natural history of severe anemia in cartilage-hair hypoplasia. (16097009)
2005
21
Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH). (15125877)
2004
22
Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia. (15167352)
2004
23
Increased mortality in cartilage-hair hypoplasia. (11124791)
2001
24
Hirschsprung disease associated with severe cartilage-hair hypoplasia. (11391344)
2001
25
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia. (11370774)
2001
26
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. (11251995)
2001
27
Treatment with recombinant IL-2 for recurrent respiratory infection in a case of cartilage-hair hypoplasia with autoimmune hemolytic anemia. (10633276)
2000
28
Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system. (10690856)
2000
29
Radiologic changes in infancy in McKusick cartilage hair hypoplasia. (10494084)
1999
30
Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. (9799296)
1998
31
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia. (8777921)
1996
32
Cartilage-hair hypoplasia associated with IgG2 deficiency. (8775556)
1995
33
Locus homogeneity for cartilage-hair hypoplasia proven? (7649562)
1995
34
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene. (7977356)
1994
35
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. (7981754)
1993
36
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients. (8444246)
1993
37
Cartilage-hair hypoplasia syndrome: immunological evaluation of two cases. (8235252)
1993
38
Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. (1404295)
1992
39
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. (1437368)
1992
40
Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia. (1743218)
1991
41
Cartilage hair hypoplasia with thrombocytopenic purpura, autoimmune haemolytic anaemia and cell-mediated immunodeficiency. (3950893)
1986
42
Lymphocyte dysfunction in cartilage hair hypoplasia. II. Evidence for a cell cycle specific defect in T cell growth. (6984669)
1982
43
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. (7163267)
1982
44
An inverted ratio for T-helper/T-suppressor cells, and selective deficiency of cell-mediated immunity, in a girl with cartilage hair hypoplasia. (6450048)
1980
45
Craniofacial and dental characteristics of cartilage-hair hypoplasia. (272241)
1978
46
Cellular and humoral immmunity in cartilage-hair hypoplasia. (724297)
1978
47
Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, type McKusick) with combined immune deficiency: variable expression and development of immunologic functions in sibs. (728552)
1978
48
Letter: Normal red cell adenosine deaminase activity in cartilage-hair hypoplasia. (1151542)
1975
49
Metaphyseal chondrodysplasia, McKusick type (cartilage hair hypoplasia). (4549299)
1974
50
DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. (14284412)
1965

Variations for Cartilage-Hair Hypoplasia

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Clinvar genetic disease variations for Cartilage-Hair Hypoplasia:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1RMRP: n.71A> Gsingle nucleotide variantPathogenicrs199476103GRCh37Chr 9, 35657945: 35657945
2RMRPRMRP, 262G-Tsingle nucleotide variantPathogenic
3RMRPRMRP, 10-BP DUP, NT-13duplicationPathogenic
4RMRPRMRP, 15-BP DUP, NT-10duplicationPathogenic
5RMRPRMRP, 2-BP DUP, 98TGduplicationPathogenic
6RMRPRMRP, 6-BP INS, NT-6insertionPathogenic
7RMRPRMRP, 18-BP DUP, NT-3duplicationPathogenic
8RMRPRMRP, 193G-Asingle nucleotide variantPathogenic
9RMRPRMRP, 17-BP DUP, NT3duplicationPathogenic
10RMRPRMRP, 182G-Asingle nucleotide variantPathogenic
11RMRPRMRP, 1-BP INS, 195TinsertionPathogenic
12RMRPRMRP, 63C-Tsingle nucleotide variantPathogenic

Expression for genes affiliated with Cartilage-Hair Hypoplasia

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Expression patterns in normal tissues for genes affiliated with Cartilage-Hair Hypoplasia

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Pathways for genes affiliated with Cartilage-Hair Hypoplasia

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Pathways related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5RNASEH2A, RNASEH1
2
Show member pathways
9.4COL10A1, IL11RA, CCL2, LAMA2
39.1CDC14A, CCNB2

Compounds for genes affiliated with Cartilage-Hair Hypoplasia

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Sources:
44Novoseek
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Compounds related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1anaphylatoxin449.9RPS19, CCL2

GO Terms for genes affiliated with Cartilage-Hair Hypoplasia

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Biological processes related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1monocyte chemotaxisGO:0025489.9RPS19, CCL2
2tRNA processingGO:0080339.6RPP25, POP5
3RNA catabolic processGO:0064019.4RNASEH2A, RNASEH1
4RNA phosphodiester bond hydrolysisGO:0905019.2RNASEH2A, RNASEH1

Molecular functions related to Cartilage-Hair Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ribonuclease activityGO:0045409.5RNASEH2A, RNASEH1
2RNA-DNA hybrid ribonuclease activityGO:0045239.4RNASEH2A, RNASEH1
3ribonuclease P activityGO:0045269.3RPP25, POP5

Products for genes affiliated with Cartilage-Hair Hypoplasia

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Sources for Cartilage-Hair Hypoplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet