HHRRD
MCID: HMR045
MIFTS: 17

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 72 29 6
Hfhrtrd 57 72
Hhrrd 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
humerofemoral hypoplasia with radiotibial ray deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618022
MeSH 44 D004480
SNOMED-CT via HPO 68 17190001 258211005 93250003

Summaries for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

UniProtKB/Swiss-Prot : 72 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 congenital diaphragmatic hernia

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) (Updated 20-May-2021)

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 retrognathia 31 HP:0000278
2 congenital diaphragmatic hernia 31 HP:0000776
3 bilateral talipes equinovarus 31 HP:0001776
4 hypoplastic scapulae 31 HP:0000882
5 short clavicles 31 HP:0000894
6 absent thumb 31 HP:0009777
7 hypoplastic pelvis 31 HP:0008839
8 prominent glabella 31 HP:0002057
9 bowed humerus 31 HP:0003865

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
hypoplastic clavicles

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
Skeletal Pelvis:
hypoplastic pelvis

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

Chest Diaphragm:
diaphragmatic hernia

Clinical features from OMIM®:

618022 (Updated 20-May-2021)

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

Genetic tests related to Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

# Genetic test Affiliating Genes
1 Humerofemoral Hypoplasia with Radiotibial Ray Deficiency 29 RSPO2

Anatomical Context for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

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

40
Bone

Publications for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

Articles related to Humerofemoral Hypoplasia with Radiotibial Ray Deficiency:

# Title Authors PMID Year
1
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. 6 57
29769720 2018

Variations for Humerofemoral Hypoplasia with Radiotibial Ray Deficiency

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RSPO2 NM_178565.5(RSPO2):c.205C>T (p.Arg69Cys) SNV Pathogenic 545634 rs758888137 GRCh37: 8:109001362-109001362
GRCh38: 8:107989134-107989134

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

72
# Symbol AA change Variation ID SNP ID
1 RSPO2 p.Arg69Cys VAR_081036 rs758888137

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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