OFD17
MCID: ORF051
MIFTS: 23

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, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome Xvii

MalaCards integrated aliases for Orofaciodigital Syndrome Xvii:

Name: Orofaciodigital Syndrome Xvii 57 12 72
Orofaciodigital Syndrome 17 72 29 6
Oral-Facial-Digital Syndrome, Type Xvii 57 72
Ofds Xvii 57 72
Ofd17 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
orofaciodigital syndrome xvii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xvii

UniProtKB/Swiss-Prot : 72 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 orofaciodigital syndrome 17. An important gene associated with Orofaciodigital Syndrome Xvii is INTU (Inturned Planar Cell Polarity Protein). Affiliated tissues include eye and tongue, and related phenotypes are short neck and hearing impairment

Disease Ontology : 12 An orofaciodigital syndrome that has material basis in homozygous mutation in the INTU gene on chromosome 4q28.

More information from OMIM: 617926 PS311200

Related Diseases for Orofaciodigital Syndrome Xvii

Symptoms & Phenotypes for Orofaciodigital Syndrome Xvii

Human phenotypes related to Orofaciodigital Syndrome Xvii:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 short neck 31 very rare (1%) HP:0000470
2 hearing impairment 31 very rare (1%) HP:0000365
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 short stature 31 very rare (1%) HP:0004322
5 retrognathia 31 very rare (1%) HP:0000278
6 low-set ears 31 very rare (1%) HP:0000369
7 high, narrow palate 31 very rare (1%) HP:0002705
8 inverted nipples 31 very rare (1%) HP:0003186
9 micropenis 31 very rare (1%) HP:0000054
10 tetralogy of fallot 31 very rare (1%) HP:0001636
11 ventriculomegaly 31 very rare (1%) HP:0002119
12 renal hypoplasia 31 very rare (1%) HP:0000089
13 decreased body weight 31 very rare (1%) HP:0004325
14 partial duplication of thumb phalanx 31 very rare (1%) HP:0009944
15 prominent metopic ridge 31 very rare (1%) HP:0005487
16 median cleft lip 31 very rare (1%) HP:0000161
17 prominent nose 31 very rare (1%) HP:0000448
18 clinodactyly 31 very rare (1%) HP:0030084
19 polydactyly 31 very rare (1%) HP:0010442
20 short middle phalanx of the 2nd finger 31 very rare (1%) HP:0009577
21 cns hypomyelination 31 very rare (1%) HP:0003429
22 clubbing of fingers 31 very rare (1%) HP:0100759
23 central y-shaped metacarpal 31 very rare (1%) HP:0006145

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck

Head And Neck Face:
retrognathia
prominent metopic ridge

Genitourinary External Genitalia Male:
micropenis

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

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

Growth Height:
short stature

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

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 (Updated 20-May-2021)

Drugs & Therapeutics for Orofaciodigital Syndrome Xvii

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xvii

Genetic Tests for Orofaciodigital Syndrome Xvii

Genetic tests related to Orofaciodigital Syndrome Xvii:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome 17 29 INTU

Anatomical Context for Orofaciodigital Syndrome Xvii

MalaCards organs/tissues related to Orofaciodigital Syndrome Xvii:

40
Eye, Tongue

Publications for Orofaciodigital Syndrome Xvii

Articles related to Orofaciodigital Syndrome Xvii:

# Title Authors PMID Year
1
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. 57 6
27158779 2016
2
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 57
23459408 2013

Variations for Orofaciodigital Syndrome Xvii

ClinVar genetic disease variations for Orofaciodigital Syndrome Xvii:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INTU NM_015693.4(INTU):c.396del (p.Asn132fs) Deletion Pathogenic 504484 rs1553970289 GRCh37: 4:128564925-128564925
GRCh38: 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 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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