OFD17
MCID: ORF051
MIFTS: 25

Orofaciodigital Syndrome Xvii (OFD17)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Orofaciodigital Syndrome Xvii

MalaCards integrated aliases for Orofaciodigital Syndrome Xvii:

Name: Orofaciodigital Syndrome Xvii 57 12 75 6
Oral-Facial-Digital Syndrome, Type Xvii 57 75
Ofds Xvii 57 75
Ofd17 57 75
Orofaciodigital Syndrome 17 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated march 2018)


HPO:

32
orofaciodigital syndrome xvii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xvii

UniProtKB/Swiss-Prot : 75 Orofaciodigital syndrome 17: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD17 inheritance is autosomal recessive.

MalaCards based summary : Orofaciodigital Syndrome Xvii, is also known as oral-facial-digital syndrome, type xvii. An important gene associated with Orofaciodigital Syndrome Xvii is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include kidney, bone and eye, and related phenotypes are low-set ears and short neck

Description from OMIM: 617926

Related Diseases for Orofaciodigital Syndrome Xvii

Symptoms & Phenotypes for Orofaciodigital Syndrome Xvii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss, bilateral

Growth Height:
short stature

Neurologic Central Nervous System:
ventriculomegaly
speech delay
hypomyelination of the corpus callosum

Genitourinary External Genitalia Male:
micropenis

Skeletal Hands:
clubbing of fingers
polydactyly, bilateral
bifid thumb, unilateral
y-shaped central metacarpals, bilateral
hypoplastic middle phalanx of index finger
more
Growth Weight:
low weight

Chest Breasts:
inverted nipples, bilateral

Skeletal Feet:
polydactyly, bilateral
bifid great toe, bilateral

Head And Neck Neck:
short neck

Head And Neck Face:
retrognathia
prominent metopic ridge

Cardiovascular Heart:
tetralogy of fallot

Head And Neck Nose:
prominent nose

Head And Neck Mouth:
high-arched palate
midline cleft upper lip
nodular tongue

Skin Nails Hair Hair:
low hairline

Genitourinary Kidneys:
small kidneys, bilateral

Skin Nails Hair Skin:
bluish discoloration of fingertips


Clinical features from OMIM:

617926

Human phenotypes related to Orofaciodigital Syndrome Xvii:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 very rare (1%) HP:0000369
2 short neck 32 very rare (1%) HP:0000470
3 clinodactyly 32 very rare (1%) HP:0030084
4 hearing impairment 32 very rare (1%) HP:0000365
5 delayed speech and language development 32 very rare (1%) HP:0000750
6 short stature 32 very rare (1%) HP:0004322
7 retrognathia 32 very rare (1%) HP:0000278
8 high, narrow palate 32 very rare (1%) HP:0002705
9 inverted nipples 32 very rare (1%) HP:0003186
10 ventriculomegaly 32 very rare (1%) HP:0002119
11 tetralogy of fallot 32 very rare (1%) HP:0001636
12 renal hypoplasia 32 very rare (1%) HP:0000089
13 partial duplication of thumb phalanx 32 very rare (1%) HP:0009944
14 decreased body weight 32 very rare (1%) HP:0004325
15 prominent metopic ridge 32 very rare (1%) HP:0005487
16 micropenis 32 very rare (1%) HP:0000054
17 median cleft lip 32 very rare (1%) HP:0000161
18 prominent nose 32 very rare (1%) HP:0000448
19 cns hypomyelination 32 very rare (1%) HP:0003429
20 clubbing of fingers 32 very rare (1%) HP:0100759
21 central y-shaped metacarpal 32 very rare (1%) HP:0006145
22 polydactyly 32 very rare (1%) HP:0010442
23 short middle phalanx of the 2nd finger 32 very rare (1%) HP:0009577

Drugs & Therapeutics for Orofaciodigital Syndrome Xvii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xvii

Genetic Tests for Orofaciodigital Syndrome Xvii

Anatomical Context for Orofaciodigital Syndrome Xvii

MalaCards organs/tissues related to Orofaciodigital Syndrome Xvii:

41
Kidney, Bone, Eye, Tongue

Publications for Orofaciodigital Syndrome Xvii

Variations for Orofaciodigital Syndrome Xvii

ClinVar genetic disease variations for Orofaciodigital Syndrome Xvii:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INTU NM_015693.3(INTU): c.396delT (p.Asn132Lysfs) deletion Pathogenic GRCh37 Chromosome 4, 128564925: 128564925
2 INTU NM_015693.3(INTU): c.396delT (p.Asn132Lysfs) deletion Pathogenic GRCh38 Chromosome 4, 127643770: 127643770

Expression for Orofaciodigital Syndrome Xvii

Search GEO for disease gene expression data for Orofaciodigital Syndrome Xvii.

Pathways for Orofaciodigital Syndrome Xvii

GO Terms for Orofaciodigital Syndrome Xvii

Sources for Orofaciodigital Syndrome Xvii

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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