HHRRD
MCID: HMR045
MIFTS: 13

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 57 75 6
Hfhrtrd 57 75
Hhrrd 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618022
MedGen 42 CN248526
MeSH 44 D004480

Summaries for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

UniProtKB/Swiss-Prot : 75 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.

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone

Publications for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Variations for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

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 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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