FDH
MCID: FCL009
MIFTS: 65

Focal Dermal Hypoplasia (FDH) malady

Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases categories

Summaries for Focal Dermal Hypoplasia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. most individuals with this condition are female. males usually have milder signs and symptoms than females. although intelligence is typically unaffected, some individuals have intellectual disability. this condition is caused by mutations in the porcn gene and is inherited in an x-linked dominant manner. most cases of focal dermal hypoplasia in females result from new mutations in the porcn gene and occur in people with no history of the disorder in their family. when focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. last updated: 9/23/2011

MalaCards: Focal Dermal Hypoplasia, also known as goltz syndrome, is related to nevoid basal cell carcinoma syndrome and brachydactyly, and has symptoms including structural anomalies of middle ear/ossicles/tympanic cavity, hypoplastic lungs/pulmonary hypoplasia/agenesis and diaphragmatic hernia/defect/agenesis. An important gene associated with Focal Dermal Hypoplasia is PORCN (porcupine homolog (Drosophila)). The compounds protochlorophyllide and hydride have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related mouse phenotypes are renal/urinary system and limbs/digits/tail.

Genetics Home Reference:21 Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.

Wikipedia:63 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:46 305600

GeneReviews summary for focal-dh

Aliases & Classifications for Focal Dermal Hypoplasia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

focal dermal hypoplasia 8 9 19 42 20 22 21 46 10 48 60
goltz syndrome 8 19 42 21 48
goltz-gorlin syndrome 19 21 48
basal cell nevus syndrome 60
goltz gorlin syndrome 42
dhof 42
fodh 42
fdh 42


External Ids:

Disease Ontology8 DOID:2120
NCIt39 C84715
OMIM46 305600
MeSH34 D005489
SNOMED-CT56 205573006, 2298005
MESH via Orphanet35 D005489
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet57 205573006, 2298005
UMLS via Orphanet61 C0016395

Related Diseases for Focal Dermal Hypoplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Focal Dermal Hypoplasia:



Diseases related to focal dermal hypoplasia

Clinical Features for Focal Dermal Hypoplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

305600

Clinical synopsis from OMIM:

305600

Symptoms:

48 (show all 70)
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • narrow nasal bridge
  • anomalies of hands
  • aniridia/iris hypoplasia
  • tooth shape anomaly
  • pointed chin
  • anodontia/oligodontia/hypodontia
  • skin tumors/lumps/epidermal cysts
  • spina bifida
  • upper limb polydactyly/hexadactyly
  • enamel anomaly
  • oligodactyly/ectrodactyly of toes
  • syndactyly of toes
  • pulmonary veins anomalies
  • anetodermia/dermal atrophy
  • mediastinal anomalies
  • acute hepatic failure
  • choroidal anomalies/atrophy/choroideremia
  • duodenal atresia/stenosis/megaduodenum
  • abnormal fat distribution/lipodystrophy
  • rough trabeculation of bone
  • alopecia
  • upper limb asymmetry/hemiatrophy/hemihypertrophy
  • oligodactyly/ectrodactyly of fingers
  • omphalocele/exomphalos
  • camptodactyly of fingers
  • clavicle absent/abnormal
  • ventricular septal defect/interventricular communication
  • skin hypoplasia/aplasia/atrophy
  • macules
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • ectopic/horseshoe/fused kidneys
  • nails anomalies
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • anomalies of teeth and dentition
  • umbilical hernia
  • inguinal/inguinoscrotal/crural hernia
  • dental malocclusion
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • corneal clouding/opacity/vascularisation
  • early death/lethality
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • scoliosis
  • epiphyseal anomaly
  • syndactyly of fingers/interdigital palm
  • telangiectasiae of the skin
  • warts/papillomas
  • lens dislocation/luxation/subluxation/ectopia lentis
  • cardiac septal defect
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • coloboma of iris
  • agenesis/hypoplasia/aplasia of kidneys
  • multicystic kidney/renal dysplasia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • x-linked dominant inheritance
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • acute abdominal pain/colic
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • anomalies of ear and hearing
  • patent ductus arteriosus
  • strabismus/squint
  • thin skin
  • herniae
  • anomalies of the ribs
  • low set ears/posteriorly rotated ears

Drugs & Therapeutics for Focal Dermal Hypoplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Focal Dermal Hypoplasia

Search CenterWatch for Focal Dermal Hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

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20GeneTests, 22GTR
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Genetic tests related to Focal Dermal Hypoplasia:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia20 22 PORCN

Anatomical Context for Focal Dermal Hypoplasia

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32MalaCards
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MalaCards organs/tissues related to Focal Dermal Hypoplasia:

32
Skin, Eye, Kidney, Bone, Lung, Uterus

Animal Models for Focal Dermal Hypoplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Focal Dermal Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0PTCH1, WNT3A, PORCN, POR, OFD1
2MP:00053718.6PTCH1, WLS, OFD1, POR, PORCN, WNT3A
3MP:00053828.4WLS, OFD1, POR, PORCN, WNT3A, PTCH1
4MP:00053818.4WLS, OFD1, PORCN, WNT3A, IKBKG, PTCH1
5MP:00053808.3WLS, OFD1, POR, PORCN, HCCS, WNT3A
6MP:00053858.1OFD1, POR, HCCS, WNT3A, IKBKG, PTCH1
7MP:00107687.2WLS, OFD1, POR, PORCN, HCCS, WNT3A

Publications for Focal Dermal Hypoplasia

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50PubMed
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Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Focal dermal hypoplasia: updates. (23463902)
2014
2
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene. (22735390)
2013
3
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T&gt;C:p.F417S) and unusual spinal anomaly. (23696273)
2013
4
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia. (22250236)
2012
5
Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). (22412863)
2012
6
Esophageal papillomas and skin abnormalities. Focal dermal hypoplasia (Goltz syndrome) manifesting with esophageal papillomatosis. (21272558)
2011
7
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. (21768372)
2011
8
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. (20854095)
2010
9
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). (21078256)
2010
10
Oral manifestations associated with focal dermal hypoplasia. (19321948)
2009
11
Severe focal dermal hypoplasia in a female patient transmitted from a mildly affected mother. (19335698)
2009
12
Novel PORCN mutations in focal dermal hypoplasia. (19863546)
2009
13
PORCN gene mutations and the protean nature of focal dermal hypoplasia. (19292719)
2009
14
PORCN mutations in focal dermal hypoplasia: coping with lethality. (19309688)
2009
15
Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. (17951029)
2008
16
A case of focal dermal hypoplasia (Goltz) syndrome with exophytic granulation tissue treated by curettage and photodynamic therapy. (16487098)
2006
17
Enamel defects and Lyonization in focal dermal hypoplasia. (15583541)
2004
18
Focal dermal hypoplasia (Goltz-Gorlin syndrome). (12666897)
2002
19
Dental and oral lesions in two patients with focal dermal hypoplasia (Goltz syndrome). (11128257)
2000
20
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. (10586128)
1999
21
Mucosal lesions in focal dermal hypoplasia syndrome. (11507512)
1999
22
Focal dermal hypoplasia syndrome. (20921687)
1999
23
A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. (10028871)
1998
24
Focal dermal hypoplasia: a case with minor clinical manifestations. (9602244)
1998
25
Palmar papillomatous lesions reminiscent of epidermal nevus in a case of focal dermal hypoplasia: a nosological consideration. (8884155)
1996
26
Histopathological study of focal dermal hypoplasia (Goltz syndrome). (1424253)
1992
27
Minimal focal dermal hypoplasia in a man: a case of father-to-daughter transmission. (1761764)
1991
28
Focal dermal hypoplasia with an initial inflammatory phase. (2080122)
1990
29
Focal dermal hypoplasia. Current concepts and differential diagnosis. (2778600)
1989
30
Focal dermal hypoplasia syndrome in the neonate. (2704015)
1989
31
Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome. (2592623)
1989
32
Focal dermal hypoplasia syndrome. Case report and literature review. (6630607)
1983
33
A case of focal dermal hypoplasia. (7083620)
1982
34
Possible examples of the goltz syndrome (focal dermal hypoplasia) without linear areas of skin hypoplasia. (7139115)
1982
35
Focal dermal hypoplasia: ocular manifestations in a male. (7153824)
1982
36
Focal dermal hypoplasia in a father and daughter. (7217396)
1981
37
Focal dermal hypoplasia (Goltz's syndrome) with an expansile iliac lesion. A case report. (7204450)
1981
38
Focal dermal hypoplasia: abnormal growth characteristics of skin fibroblasts in culture. (7410885)
1980
39
Focal dermal hypoplasia. (581773)
1979
40
Focal dermal hypoplasia syndrome (a case report). (700884)
1978
41
Focal dermal hypoplasia syndrome. The second known case in Japan. (686730)
1978
42
Focal dermal hypoplasia (Goltz's syndrome) manifesting as condyloma acuminatum: report of a case and review of the literature. (188606)
1977
43
Focal dermal hypoplasia (Goltz syndrome) in a male. A case report. (1273724)
1976
44
Letter: Striated osteopathy in focal dermal hypoplasia. (1190805)
1975
45
Focal dermal hypoplasia. (4426129)
1974
46
Focal dermal hypoplasia. (4212018)
1974
47
Focal dermal hypoplasia. A nine-year follow-up study. (4745291)
1973
48
Focal dermal hypoplasia syndrome. A review of the literature and report of two cases. (5416790)
1970
49
CONGENITAL FOCAL DERMAL HYPOPLASIA. (14252686)
1965
50
Focal dermal hypoplasia. (13948891)
1962

Genetic Variations for Focal Dermal Hypoplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Focal Dermal Hypoplasia:

62 (show all 15)
id Symbol AA change Variation ID SNP ID
1PORCNp.Gly60ArgVAR_035089
2PORCNp.Arg365GlyVAR_035090
3PORCNp.Ser136PheVAR_058899
4PORCNp.Gly168ArgVAR_058900
5PORCNp.Val258GluVAR_058902
6PORCNp.His341LeuVAR_058903
7PORCNp.Arg365GlnVAR_058904
8PORCNp.Cys385ArgVAR_058905
9PORCNp.Trp439ArgVAR_058906
10PORCNp.His252TyrVAR_065189
11PORCNp.Ser297LeuVAR_065190
12PORCNp.Leu331ArgVAR_065191
13PORCNp.Glu361ValVAR_065192
14PORCNp.Cys385TyrVAR_065193
15PORCNp.Ala374ProVAR_066061

Expression for genes affiliated with Focal Dermal Hypoplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Focal Dermal Hypoplasia

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Pathways for genes affiliated with Focal Dermal Hypoplasia

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Compounds for genes affiliated with Focal Dermal Hypoplasia

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44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank
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Compounds related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1protochlorophyllide449.8PORCN, POR
2hydride449.6ADH5, POR
3quinidine44 28 49 1112.5POR, ORM1

GO Terms for genes affiliated with Focal Dermal Hypoplasia

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16Gene Ontology
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Cellular components related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MSL complexGO:0724879.2MSL2, MSL3

Biological processes related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone H4-K16 acetylationGO:0439849.2MSL2, MSL3

Products for genes affiliated with Focal Dermal Hypoplasia

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Sources for Focal Dermal Hypoplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet