FDH
MCID: FCL009
MIFTS: 56

Focal Dermal Hypoplasia (FDH) malady

Neuronal, Eye, Skin, Fetal categories

Summaries for Focal Dermal Hypoplasia

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 low set ears/posteriorly rotated ears, syndactyly of fingers/interdigital palm and epiphyseal anomaly. 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, kidney and uterus, 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:64 Focal dermal hypoplasia (also known as \"Goltz syndrome\") is a form of ectodermal dysplasia. It is a... more...

Description from OMIM:47 305600

GeneReviews summary for focal-dh

Aliases & Classifications for Focal Dermal Hypoplasia

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
focal dermal hypoplasia:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

focal dermal hypoplasia 8 9 19 43 20 22 21 47 10 49 61
goltz syndrome 8 19 43 21 49
goltz-gorlin syndrome 19 21 49
basal cell nevus syndrome 61
goltz gorlin syndrome 43
fodh 43
dhof 43
fdh 43


External Ids:

Disease Ontology8 DOID:2120
NCIt40 C84715
OMIM47 305600
MeSH35 D005489
SNOMED-CT57 205573006, 2298005
MESH via Orphanet36 D005489
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet58 205573006, 2298005
UMLS via Orphanet62 C0016395

Related Diseases for Focal Dermal Hypoplasia

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

305600

Clinical synopsis from OMIM:

305600

Symptoms:

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

Drugs & Therapeutics for Focal Dermal Hypoplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Focal Dermal Hypoplasia

Genetic Tests for Focal Dermal Hypoplasia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Focal Dermal Hypoplasia:

id Genetic test Affiliating Genes
1 Focal Dermal Hypoplasia20 22 PORCN

Anatomical Context for Focal Dermal Hypoplasia

Sources:
33MalaCards
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MalaCards organs/tissues related to Focal Dermal Hypoplasia:

33
Skin, Kidney, Uterus, Uterus corpus

Animal Models for Focal Dermal Hypoplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Focal Dermal Hypoplasia

Sources:
51PubMed
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Articles related to Focal Dermal Hypoplasia:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Focal dermal hypoplasia without focal dermal hypoplasia. (24357603)
2013
2
A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene. (22735390)
2013
3
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome. (23131169)
2013
4
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
5
Spontaneous patella fracture presenting as osteomyelitis in focal dermal hypoplasia. (22000280)
2012
6
Epilepsy in a patient with focal dermal hypoplasia. (21215914)
2011
7
Focal dermal hypoplasia with uterus bicornis and renal ectopia: case report and review of the literature. (21941481)
2011
8
Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. (21768372)
2011
9
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. (20626533)
2011
10
Focal dermal hypoplasia: a case report and literature review. (21684779)
2011
11
PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. (20854095)
2010
12
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). (21078256)
2010
13
Oral manifestations associated with focal dermal hypoplasia. (19321948)
2009
14
Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome). (19012972)
2009
15
Severe focal dermal hypoplasia in a female patient transmitted from a mildly affected mother. (19335698)
2009
16
Caudal appendage in focal dermal hypoplasia (Goltz syndrome). (18388786)
2008
17
Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. (18325042)
2008
18
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. (17546030)
2007
19
Focal dermal hypoplasia with unusual cutaneous features. (17845162)
2007
20
Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. (17159518)
2007
21
Focal dermal hypoplasia syndrome in a male. (11558888)
2001
22
Focal dermal hypoplasia (Goltz-Gorlin syndrome) associated with obstructive papillomatosis of the larynx and hypopharynx. (10586128)
1999
23
Mucosal lesions in focal dermal hypoplasia syndrome. (11507512)
1999
24
A family presenting Goltz syndrome (focal dermal hypoplasia) in three generations. (10028871)
1998
25
Focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations. (10233627)
1998
26
Focal dermal hypoplasia: a case with minor clinical manifestations. (9602244)
1998
27
Focal dermal hypoplasia (Goltz syndrome): a decreased accumulation of hyaluronic acid in three-dimensional culture. (8891009)
1996
28
Focal dermal hypoplasia: four cases with widely varying presentations. (8491876)
1993
29
Focal dermal hypoplasia syndrome. An update. (1497368)
1992
30
Histopathological study of focal dermal hypoplasia (Goltz syndrome). (1424253)
1992
31
Focal dermal hypoplasia. (2080128)
1990
32
Focal dermal hypoplasia syndrome (Goltz syndrome): the first dental case report. (3466146)
1986
33
Possible examples of the goltz syndrome (focal dermal hypoplasia) without linear areas of skin hypoplasia. (7139115)
1982
34
Omphalocele and focal dermal hypoplasia. (7340281)
1981
35
Focal dermal hypoplasia. (581773)
1979
36
Focal dermal hypoplasia in a 46, XY male. (528102)
1979
37
Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome). (477680)
1979
38
Focal dermal hypoplasia syndrome (a case report). (700884)
1978
39
Focal dermal hypoplasia syndrome. The second known case in Japan. (686730)
1978
40
Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism? (843447)
1977
41
Ocular manifestations of focal dermal hypoplasia syndrome. (200206)
1977
42
Focal dermal hypoplasia. (1265024)
1976
43
Focal dermal hypoplasia goltz's syndrome. (179102)
1976
44
Focal dermal hypoplasia. (4371807)
1974
45
A case of focal dermal hypoplasia syndrome (Goltz) with bilateral cheilo-gnatho-palatoschisis. (4820595)
1974
46
Focal dermal hypoplasia. (4426129)
1974
47
Focal dermal hypoplasia syndrome. (4322140)
1970
48
?Focal dermal hypoplasia; ?multiple cutaneous infarcts of the newborn. (5359910)
1969
49
Goltz's syndrome: focal dermal hypoplasia. A combined mesoectodermal dysplasia. (4292216)
1967
50
FOCAL DERMAL HYPOPLASIA SYNDROME. (14051108)
1963

Genetic Variations for Focal Dermal Hypoplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Focal Dermal Hypoplasia:

63 (show all 15)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Focal Dermal Hypoplasia

Search GEO for disease gene expression data for Focal Dermal Hypoplasia.

Pathways for genes affiliated with Focal Dermal Hypoplasia

Compounds for genes affiliated with Focal Dermal Hypoplasia

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 11DrugBank
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Compounds related to Focal Dermal Hypoplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1protochlorophyllide459.8PORCN, POR
2hydride459.6ADH5, POR
3quinidine45 29 50 1112.5POR, ORM1

GO Terms for genes affiliated with Focal Dermal Hypoplasia

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet