MCID: ECT042
MIFTS: 32

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 malady

Genetic diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases, Rare diseases categories
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Summaries for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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MalaCards based summary: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, also known as eec syndrome, is related to eec syndrome and ectodermal dysplasia, and has symptoms including absent/decreased/thin eyebrows, thick/bushy eyebrows and defect/anomaly of lacrimal system. An important gene associated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 is TP63 (tumor protein p63). Affiliated tissues include skin, eye and bone.

Descriptions from OMIM:46 129900,604292

Aliases & Classifications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Sources:
48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3, Aliases & Descriptions:

Name: Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 46
Eec Syndrome 48 46 62
 
Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/palate 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
eec syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

ICD10 via Orphanet26 Q82.4
UMLS via Orphanet63 C0406704

Related Diseases for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1eec syndrome11.0
2ectodermal dysplasia10.8
3cleft lip10.6
4cleft palate10.4
5choanal atresia10.2
6ectrodactyly - ectodermal dysplasia without clefting10.2
7b-cell lymphomas10.1
8breast reconstruction10.1
9anodontia10.1
10diabetes insipidus10.1
11adult syndrome10.1
12trigeminal neuralgia10.1
13microphthalmia10.1
14hypogonadism10.1
15oligohydramnios10.1
16orofacial cleft10.1
17anophthalmia/microphthalmia10.1
18ectrodactyly and ectodermal dysplasia without cleft lip/palate10.1
19freire-maia odontotrichomelic syndrome10.1
20hydrops fetalis10.1
21limb-mammary syndrome10.1
22abdominal wall defect10.1
23eec syndrome-110.1
24monosomy 2110.1
25odontotrichomelic syndrome10.1
26split foot10.1
27split hand10.1

Graphical network of the top 20 diseases related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:



Diseases related to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

Symptoms for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Symptoms by clinical synopsis from OMIM:

129900

Clinical features from OMIM:

129900,604292

Symptoms:

48 (show all 50)
  • absent/decreased/thin eyebrows
  • thick/bushy eyebrows
  • defect/anomaly of lacrimal system
  • taurodontia
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • multiple caries
  • oligodactyly/ectrodactyly of fingers
  • oligodactyly/ectrodactyly of toes
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • dry/squaly skin/exfoliation
  • coarse/thick hair
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • autosomal dominant inheritance
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • photophobia
  • cleft lip and palate
  • skin hypoplasia/aplasia/atrophy
  • diffuse/generalised skin hypopigmentation/cutaneous albinism
  • slow growth of the hair
  • agenesis/hypoplasia/aplasia of kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • ectropion/entropion/eyelid eversion
  • choanal atresia
  • mouth dryness/xerostomia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • external ear anomalies
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • breast tissue/mammary gland absence/aplasia
  • hypoplastic/absent nipples
  • syndactyly of fingers/interdigital palm
  • thumb hypoplasia/aplasia/absence
  • proximally set thumb
  • syndactyly of toes
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • fine hair
  • thymic aplasia/hypoplasia
  • vesicorenal/vesicoureteral reflux
  • hypospadias/epispadias/bent penis
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • lymphoma
  • short stature/dwarfism/nanism

HPO human phenotypes related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

(show all 155)
id Description Frequency HPO Source Accession
1 thick eyebrow hallmark (90%) HP:0000574
2 lacrimation abnormality hallmark (90%) HP:0000632
3 carious teeth hallmark (90%) HP:0000670
4 taurodontia hallmark (90%) HP:0000679
5 abnormality of dental enamel hallmark (90%) HP:0000682
6 microdontia hallmark (90%) HP:0000691
7 dry skin hallmark (90%) HP:0000958
8 hyperkeratosis hallmark (90%) HP:0000962
9 split hand hallmark (90%) HP:0001171
10 abnormality of the fingernails hallmark (90%) HP:0001231
11 split foot hallmark (90%) HP:0001839
12 coarse hair hallmark (90%) HP:0002208
13 abnormality of the toenail hallmark (90%) HP:0008388
14 reduced number of teeth hallmark (90%) HP:0009804
15 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
16 photophobia typical (50%) HP:0000613
17 slow-growing hair typical (50%) HP:0002217
18 generalized hypopigmentation typical (50%) HP:0007513
19 aplasia/hypoplasia of the skin typical (50%) HP:0008065
20 renal hypoplasia/aplasia typical (50%) HP:0008678
21 inflammatory abnormality of the eye typical (50%) HP:0100533
22 corneal erosion typical (50%) HP:0200020
23 vesicoureteral reflux occasional (7.5%) HP:0000076
24 cleft palate occasional (7.5%) HP:0000175
25 xerostomia occasional (7.5%) HP:0000217
26 sensorineural hearing impairment occasional (7.5%) HP:0000407
27 choanal atresia occasional (7.5%) HP:0000453
28 abnormality of the eyelid occasional (7.5%) HP:0000492
29 anterior hypopituitarism occasional (7.5%) HP:0000830
30 hypohidrosis occasional (7.5%) HP:0000966
31 toe syndactyly occasional (7.5%) HP:0001770
32 fine hair occasional (7.5%) HP:0002213
33 lymphoma occasional (7.5%) HP:0002665
34 short stature occasional (7.5%) HP:0004322
35 finger syndactyly occasional (7.5%) HP:0006101
36 aplasia/hypoplasia of the nipples occasional (7.5%) HP:0006709
37 external ear malformation occasional (7.5%) HP:0008572
38 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
39 proximal placement of thumb occasional (7.5%) HP:0009623
40 aplasia/hypoplasia of the thymus occasional (7.5%) HP:0010515
41 cognitive impairment occasional (7.5%) HP:0100543
42 displacement of the external urethral meatus occasional (7.5%) HP:0100627
43 breast aplasia occasional (7.5%) HP:0100783
44 intellectual disability 7% HP:0001249
45 autosomal dominant inheritance HP:0000006
46 bladder diverticulum HP:0000015
47 inguinal hernia HP:0000023
48 cryptorchidism HP:0000028
49 hypogonadotrophic hypogonadism HP:0000044
50 micropenis HP:0000054
51 ureterocele HP:0000070
52 hydroureter HP:0000072
53 vesicoureteral reflux HP:0000076
54 duplicated collecting system HP:0000081
55 renal agenesis HP:0000104
56 renal dysplasia HP:0000110
57 hydronephrosis HP:0000126
58 rectovaginal fistula HP:0000143
59 transverse vaginal septum HP:0000145
60 cleft palate HP:0000175
61 absence of stensen duct HP:0000198
62 cleft upper lip HP:0000204
63 xerostomia HP:0000217
64 microcephaly HP:0000252
65 malar flattening HP:0000272
66 hypertelorism HP:0000316
67 hypoplasia of the maxilla HP:0000327
68 conductive hearing impairment HP:0000405
69 depressed nasal tip HP:0000437
70 choanal atresia HP:0000453
71 broad nasal tip HP:0000455
72 blepharitis HP:0000498
73 telecanthus HP:0000506
74 sparse eyebrow HP:0000535
75 blepharophimosis HP:0000581
76 photophobia HP:0000613
77 dacrocystitis HP:0000620
78 blue irides HP:0000635
79 sparse eyelashes HP:0000653
80 carious teeth HP:0000670
81 oligodontia HP:0000677
82 microdontia HP:0000691
83 growth hormone deficiency HP:0000824
84 central diabetes insipidus HP:0000863
85 hyperkeratosis HP:0000962
86 thin skin HP:0000963
87 hand polydactyly HP:0001161
88 split hand HP:0001171
89 intellectual disability HP:0001249
90 heterogeneous HP:0001425
91 selective tooth agenesis HP:0001592
92 abnormality of the nasopharynx HP:0001739
93 toe syndactyly HP:0001770
94 nail pits HP:0001803
95 split foot HP:0001839
96 anal atresia HP:0002023
97 recurrent respiratory infections HP:0002205
98 sparse scalp hair HP:0002209
99 sparse axillary hair HP:0002215
100 sparse pubic hair HP:0002225
101 fair hair HP:0002286
102 semilobar holoprosencephaly HP:0002507
103 hypoplastic nipples HP:0002557
104 generalized hypopigmentation HP:0007513
105 sparse hair HP:0008070
106 microtia HP:0008551
107 autosomal dominant inheritance HP:0000006
108 bladder diverticulum HP:0000015
109 cryptorchidism HP:0000028
110 hypogonadotrophic hypogonadism HP:0000044
111 micropenis HP:0000054
112 ureterocele HP:0000070
113 hydroureter HP:0000072
114 vesicoureteral reflux HP:0000076
115 duplicated collecting system HP:0000081
116 renal agenesis HP:0000104
117 renal dysplasia HP:0000110
118 hydronephrosis HP:0000126
119 transverse vaginal septum HP:0000145
120 cleft palate HP:0000175
121 absence of stensen duct HP:0000198
122 cleft upper lip HP:0000204
123 xerostomia HP:0000217
124 malar flattening HP:0000272
125 hypoplasia of the maxilla HP:0000327
126 hearing impairment HP:0000365
127 depressed nasal tip HP:0000437
128 choanal atresia HP:0000453
129 blepharitis HP:0000498
130 sparse eyebrow HP:0000535
131 blepharophimosis HP:0000581
132 photophobia HP:0000613
133 dacrocystitis HP:0000620
134 blue irides HP:0000635
135 sparse eyelashes HP:0000653
136 carious teeth HP:0000670
137 microdontia HP:0000691
138 growth hormone deficiency HP:0000824
139 central diabetes insipidus HP:0000863
140 hyperkeratosis HP:0000962
141 ectodermal dysplasia HP:0000968
142 split hand HP:0001171
143 selective tooth agenesis HP:0001592
144 abnormality of the nasopharynx HP:0001739
145 toe syndactyly HP:0001770
146 nail pits HP:0001803
147 split foot HP:0001839
148 sparse scalp hair HP:0002209
149 sparse axillary hair HP:0002215
150 sparse pubic hair HP:0002225
151 fair hair HP:0002286
152 hypoplastic nipples HP:0002557
153 generalized hypopigmentation HP:0007513
154 nail dystrophy HP:0008404
155 microtia HP:0008551

Drugs & Therapeutics for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Drug clinical trials:

Search ClinicalTrials for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Search NIH Clinical Center for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Genetic Tests for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Anatomical Context for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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MalaCards organs/tissues related to Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

32
Skin, Eye, Bone, Kidney, Breast

Animal Models for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate... or affiliated genes

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Publications for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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UniProtKB/Swiss-Prot genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

64 (show all 18)
id Symbol AA change Variation ID SNP ID
1TP63p.Arg243GlnVAR_020870
2TP63p.Arg243TrpVAR_020871
3TP63p.Arg318HisVAR_020873
4TP63p.Arg319CysVAR_020874
5TP63p.Arg343GlnVAR_020876
6TP63p.Cys345ArgVAR_020877
7TP63p.Asp351GlyVAR_020878
8TP63p.Arg266GlnVAR_032738
9TP63p.Cys308TyrVAR_032739
10TP63p.Ser311AsnVAR_032740
11TP63p.Arg318CysVAR_032741
12TP63p.Arg318GlnVAR_032742
13TP63p.Arg319HisVAR_032743
14TP63p.Arg319SerVAR_032744
15TP63p.Arg343TrpVAR_032745
16TP63p.Cys347SerVAR_032746
17TP63p.Pro348SerVAR_032747
18TP63p.Asp351HisVAR_032748

Clinvar genetic disease variations for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1TP63TP63, ARG227PROsingle nucleotide variantPathogenic
2TP63NM_003722.4(TP63): c.727C> T (p.Arg243Trp)single nucleotide variantPathogenicrs121908835GRCh37Chr 3, 189582168: 189582168
3TP63NM_003722.4(TP63): c.728G> A (p.Arg243Gln)single nucleotide variantPathogenicrs121908836GRCh37Chr 3, 189582169: 189582169
4TP63NM_003722.4(TP63): c.1033T> C (p.Cys345Arg)single nucleotide variantPathogenicrs121908837GRCh37Chr 3, 189586409: 189586409
5TP63TP63, 1-BP INS, 1572AinsertionPathogenic
6TP63NM_003722.4(TP63): c.953G> A (p.Arg318His)single nucleotide variantPathogenicrs121908840GRCh37Chr 3, 189585692: 189585692
7TP63NM_003722.4(TP63): c.1028G> A (p.Arg343Gln)single nucleotide variantPathogenicrs121908841GRCh37Chr 3, 189586404: 189586404
8TP63NM_003722.4(TP63): c.1052A> G (p.Asp351Gly)single nucleotide variantPathogenicrs121908844GRCh37Chr 3, 189586428: 189586428
9TP63NM_003722.4(TP63): c.797G> A (p.Arg266Gln)single nucleotide variantPathogenicrs121908849GRCh37Chr 3, 189584501: 189584501

Expression for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Expression patterns in normal tissues for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3

Search GEO for disease gene expression data for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3.

Pathways for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Compounds for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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GO Terms for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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Products for genes affiliated with Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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  • Antibodies
  • Proteins
  • Lysates

Sources for Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate...

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet