CHHV
MCID: MTP003
MIFTS: 23

Metaphyseal Dysplasia Without Hypotrichosis (CHHV)

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

Aliases & Classifications for Metaphyseal Dysplasia Without Hypotrichosis

MalaCards integrated aliases for Metaphyseal Dysplasia Without Hypotrichosis:

Name: Metaphyseal Dysplasia Without Hypotrichosis 57 53 37 29 13 6 73
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis or Immunodeficiency 57 53
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only 57 53
Chhv 57 53
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only; Chhv 57
Dysplasia, Metaphyseal, Without Hypotrichosis 40
Mdwh 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
allelic to cartilage-hair hypoplasia


HPO:

32
metaphyseal dysplasia without hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Metaphyseal Dysplasia Without Hypotrichosis

MalaCards based summary : Metaphyseal Dysplasia Without Hypotrichosis, also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency, is related to anauxetic dysplasia 1 and cartilage-hair hypoplasia. An important gene associated with Metaphyseal Dysplasia Without Hypotrichosis is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways is Ribosome biogenesis in eukaryotes. Affiliated tissues include bone, and related phenotypes are micromelia and short long bone

Description from OMIM: 250460

Related Diseases for Metaphyseal Dysplasia Without Hypotrichosis

Diseases related to Metaphyseal Dysplasia Without Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anauxetic dysplasia 1 31.5 CCDC107 RMRP
2 cartilage-hair hypoplasia 10.2
3 pyle disease 10.2
4 hypotrichosis 10.2

Symptoms & Phenotypes for Metaphyseal Dysplasia Without Hypotrichosis

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
metaphyseal dysplasia
joint laxity, mild

Skin Nails Hair Hair:
normal hair

Skeletal Pelvis:
normal pelvis

Skeletal Limbs:
short long bones
limb shortening
genu varus
metaphyseal irregularities (distal femora, proximal and distal tibiae, distal radii and ulnae)

Immunology:
no immunodeficiency

Skeletal Hands:
short metacarpals
phalangeal cone-shaped epiphyses
metacarpal/metaphyseal cupping

Skeletal Spine:
normal spine

Growth Height:
disproportionate dwarfism

Head And Neck Face:
normal facies


Clinical features from OMIM:

250460

Human phenotypes related to Metaphyseal Dysplasia Without Hypotrichosis:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 micromelia 32 HP:0002983
2 short long bone 32 HP:0003026
3 joint laxity 32 HP:0001388
4 metaphyseal cupping of metacarpals 32 HP:0006028
5 abnormality of the immune system 32 HP:0002715
6 genu varum 32 HP:0002970
7 severe short stature 32 HP:0003510
8 abnormality of pelvic girdle bone morphology 32 HP:0002644
9 abnormality of the hair 32 HP:0001595
10 short metacarpal 32 HP:0010049
11 abnormality of the vertebral column 32 HP:0000925
12 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
13 metaphyseal dysplasia 32 HP:0100255
14 metaphyseal irregularity 32 HP:0003025

Drugs & Therapeutics for Metaphyseal Dysplasia Without Hypotrichosis

Search Clinical Trials , NIH Clinical Center for Metaphyseal Dysplasia Without Hypotrichosis

Genetic Tests for Metaphyseal Dysplasia Without Hypotrichosis

Genetic tests related to Metaphyseal Dysplasia Without Hypotrichosis:

# Genetic test Affiliating Genes
1 Metaphyseal Dysplasia Without Hypotrichosis 29 RMRP

Anatomical Context for Metaphyseal Dysplasia Without Hypotrichosis

MalaCards organs/tissues related to Metaphyseal Dysplasia Without Hypotrichosis:

41
Bone

Publications for Metaphyseal Dysplasia Without Hypotrichosis

Articles related to Metaphyseal Dysplasia Without Hypotrichosis:

# Title Authors Year
1
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia. ( 2277385 )
1990

Variations for Metaphyseal Dysplasia Without Hypotrichosis

ClinVar genetic disease variations for Metaphyseal Dysplasia Without Hypotrichosis:

6
# 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 RMRP, 238C-T duplication Pathogenic
4 RMRP RMRP, 195C-T single nucleotide variant Pathogenic
5 RMRP RMRP, 12-BP DUP, NT-2 duplication Pathogenic
6 RMRP NR_003051.3(RMRP): n.-20_-19insTCTGTGAAGCTGGGGAC insertion Pathogenic rs727502779 GRCh37 Chromosome 9, 35658034: 35658035
7 RMRP NR_003051.3(RMRP): n.-20_-19insTCTGTGAAGCTGGGGAC insertion Pathogenic rs727502779 GRCh38 Chromosome 9, 35658037: 35658038
8 RMRP RMRP, 218A-G single nucleotide variant Pathogenic

Expression for Metaphyseal Dysplasia Without Hypotrichosis

Search GEO for disease gene expression data for Metaphyseal Dysplasia Without Hypotrichosis.

Pathways for Metaphyseal Dysplasia Without Hypotrichosis

Pathways related to Metaphyseal Dysplasia Without Hypotrichosis according to KEGG:

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

GO Terms for Metaphyseal Dysplasia Without Hypotrichosis

Sources for Metaphyseal Dysplasia Without Hypotrichosis

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
Content
Loading form....