HHRRD
MCID: HMR045
MIFTS: 15

Humerofemoral Hypoplasia with Radiotibial Ray Deficiency (HHRRD)

Categories: Genetic diseases

Aliases & Classifications for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

MalaCards integrated aliases for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

Name: Humerofemoral Hypoplasia with Radiotibial Ray Deficiency 58 76 6
Hfhrtrd 58 76
Hhrrd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial phenotypic variability
based on report of 4 fetuses from 1 family (last curated june 2018)


Classifications:



External Ids:

OMIM 58 618022
MeSH 45 D004480
MedGen 43 CN248526
SNOMED-CT via HPO 70 93250003

Summaries for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

UniProtKB/Swiss-Prot : 76 Humerofemoral hypoplasia with radiotibial ray deficiency: A severe disease characterized by reduction of all four limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present. HHRRD transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Humerofemoral Hypoplasia with Radiotibial Ray Deficiency, is also known as hfhrtrd. An important gene associated with Humerofemoral Hypoplasia with Radiotibial Ray Deficiency is RSPO2 (R-Spondin 2). Affiliated tissues include bone, and related phenotypes are retrognathia and hypoplastic scapulae

OMIM : 58 Humerofemoral hypoplasia with radiotibial ray deficiency is a severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis. Rudimentary finger- or toe-like appendages may be present (Szenker-Ravi et al., 2018). (618022)

Related Diseases for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Symptoms & Phenotypes for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Human phenotypes related to Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 retrognathia 33 HP:0000278
2 hypoplastic scapulae 33 HP:0000882
3 short clavicles 33 HP:0000894
4 bilateral talipes equinovarus 33 HP:0001776
5 prominent glabella 33 HP:0002057
6 absent thumb 33 HP:0009777

Symptoms via clinical synopsis from OMIM:

58
Skeletal Pelvis:
hypoplastic pelvis

Head And Neck Face:
prominent glabella
retrognathia, mild

Skeletal Feet:
absent halluces
bilateral clubfeet
2 to 3 toes per extremity

Skeletal Limbs:
mesomelic shortening of legs
short and underdeveloped upper limbs
short bowed humerus
flexion contracture of elbow with pterygia
single tubular bone of forearm
more
Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
hypoplastic clavicles

Skeletal Hands:
absent thumbs
only 1 or 2 finger-like appendages per extremity
<3/4

Chest Diaphragm:
diaphragmatic hernia

Clinical features from OMIM:

618022

Drugs & Therapeutics for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Search Clinical Trials , NIH Clinical Center for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Genetic Tests for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Anatomical Context for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

MalaCards organs/tissues related to Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

42
Bone

Publications for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Articles related to Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

# Title Authors Year
1
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. ( 29769720 )
2018

Variations for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 RSPO2 p.Arg69Cys VAR_081036

ClinVar genetic disease variations for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPO2 NM_178565.4(RSPO2): c.205C> T (p.Arg69Cys) single nucleotide variant Pathogenic rs758888137 GRCh37 Chromosome 8, 109001362: 109001362
2 RSPO2 NM_178565.4(RSPO2): c.205C> T (p.Arg69Cys) single nucleotide variant Pathogenic rs758888137 GRCh38 Chromosome 8, 107989134: 107989134

Expression for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Search GEO for disease gene expression data for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency.

Pathways for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

GO Terms for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Sources for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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