MCID: HYP561
MIFTS: 18

Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

MalaCards integrated aliases for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:

Name: Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 57 13 73
Hppd 57 59
Hypertelorism-Preauricular Sinus-Punctual Pits-Hearing Loss Syndrome 59
Hypertelorism-Preauricular Sinus-Punctual Pits-Deafness Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypertelorism, preauricular sinus, punctal pits, and deafness:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

MalaCards based summary : Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness, also known as hppd, is related to hypertelorism and preauricular sinus. An important gene associated with Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness is HPPD (Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness). Related phenotypes are hypertelorism and hearing impairment

Description from OMIM: 614187

Related Diseases for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Diseases related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.3
2 preauricular sinus 10.3

Symptoms & Phenotypes for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
preauricular sinus, bilateral
hearing loss

Genitourinary External Genitalia Male:
shawl scrotum (rare)

Skin Nails Hair Skin:
transverse distal crease across palm
bridge between vertical and transverse proximal palmar flexion creases
vertical crease in fourth interdigital space

Head And Neck Eyes:
hypertelorism
punctal pits (in some patients)
lacrimal duct obstruction (in some patients)

Skeletal Hands:
transverse distal crease across palm
bridge between vertical and transverse proximal palmar flexion creases
vertical crease in fourth interdigital space


Clinical features from OMIM:

614187

Human phenotypes related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:

32
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 hearing impairment 32 HP:0000365
3 nasolacrimal duct obstruction 32 occasional (7.5%) HP:0000579
4 preauricular pit 32 HP:0004467
5 shawl scrotum 32 occasional (7.5%) HP:0000049

Drugs & Therapeutics for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Search Clinical Trials , NIH Clinical Center for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Genetic Tests for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Anatomical Context for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Publications for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Articles related to Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness:

# Title Authors Year
1
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31. ( 21480481 )
2011

Variations for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Expression for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Search GEO for disease gene expression data for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness.

Pathways for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

GO Terms for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

Sources for Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness

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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