SFM
MCID: SCH078
MIFTS: 61

Schimmelpenning-Feuerstein-Mims Syndrome (SFM)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Schimmelpenning-Feuerstein-Mims Syndrome

MalaCards integrated aliases for Schimmelpenning-Feuerstein-Mims Syndrome:

Name: Schimmelpenning-Feuerstein-Mims Syndrome 58 76
Nevus Sebaceus of Jadassohn 58 77 54 60 76
Organoid Nevus Phakomatosis 58 54 76 74
Jadassohn Nevus Phakomatosis 58 54 76
Sfm Syndrome 58 54 76
Jnp 58 54 76
Linear Sebaceous Nevus Syndrome 58 76
Schimmelpenning Syndrome 60 76
Solomon Syndrome 60 76
Sfm 58 76
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 58
Schimmelpenning Feuerstein Mims Syndrome 54
Epidermal Nevus Syndrome, Formerly 58
Jadassohn Nevus Phakomatosis; Jnp 58
Sebaceous Nevus Syndrome, Linear 58
Linear Nevus Sebaceous Syndrome 54
Sebaceous Nevus Syndrome Linear 54
Linear Nevus Sebaceus Syndrome 60
Nevus, Sebaceous of Jadassohn 45
Sebaceous of Jadassohn Nevus 17
Epidermal Nevus Syndrome 76
Nevus Sebaceus Syndrome 60
Organoid Nevus Syndrome 60
Nevus Sebaceous 74
Ss 76

Characteristics:

Orphanet epidemiological data:

60
linear nevus sebaceus syndrome
Inheritance: Not applicable; Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
somatic mosaicism

Miscellaneous:
onset of skin lesions at birth
extracutaneous manifestations are variable
secondary tumors develop within the skin lesions


HPO:

33
schimmelpenning-feuerstein-mims syndrome:
Inheritance somatic mosaicism sporadic


Classifications:



Summaries for Schimmelpenning-Feuerstein-Mims Syndrome

NIH Rare Diseases : 54 Linear nevus sebaceous syndrome (LNSS) is a condition characterized by the association of a large, linear sebaceous nevus (type of birthmark) with a broad range of abnormalities that may affect every organ system, including the central nervous system (CNS). The nevus usually is located on the face, scalp, or neck. The most common CNS abnormalities are intellectual disability, seizures, and hemimegalencephaly (abnormal enlargement of one side of the brain). Various other CNS abnormalities have been reported. Other signs and symptoms may include various eye abnormalities; skeletal (bone) deformities; heart defects; urogenital abnormalities; and an increased risk of cancer with age. LNSS is not inherited (it is sporadic). It can be caused by a somatic mutation in any of several genes. Mutations that cause LNSS occur after fertilization and are only present in some body cells (mosaicism). Treatment is directed towards the specific symptoms in each person.

MalaCards based summary : Schimmelpenning-Feuerstein-Mims Syndrome, also known as nevus sebaceus of jadassohn, is related to nevus, epidermal and apocrine adenoma, and has symptoms including seizures An important gene associated with Schimmelpenning-Feuerstein-Mims Syndrome is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Cytokine Signaling in Immune system and CREB Pathway. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and brain, and related phenotypes are frontal bossing and intellectual disability

OMIM : 58 Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). (163200)

UniProtKB/Swiss-Prot : 76 Schimmelpenning-Feuerstein-Mims syndrome: A disease characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects. Many oral manifestations have been reported, not only including hypoplastic and malformed teeth, and mucosal papillomatosis, but also ankyloglossia, hemihyperplastic tongue, intraoral nevus, giant cell granuloma, ameloblastoma, bone cysts, follicular cysts, oligodontia, and odontodysplasia. Sebaceous nevi follow the lines of Blaschko and these can continue as linear intraoral lesions, as in mucosal papillomatosis.

Wikipedia : 77 Nevus sebaceus or sebaceous nevus (the first term is its Latin name, the second term is its name in... more...

Related Diseases for Schimmelpenning-Feuerstein-Mims Syndrome

Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 335)
# Related Disease Score Top Affiliating Genes
1 nevus, epidermal 31.6 HRAS KRAS NRAS
2 apocrine adenoma 30.2 HRAS KRAS
3 bladder urothelial carcinoma 29.2 HRAS KRAS NRAS
4 thyroid cancer 28.8 HRAS KRAS NRAS
5 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.3
6 neutrophilic dermatosis, acute febrile 12.0
7 mental retardation smith fineman myers type 11.9
8 sickle cell anemia 11.9
9 hemimegalencephaly 11.8
10 inflammatory linear verrucous epidermal nevus 11.5
11 sjogren syndrome 11.4
12 didymosis aplasticosebacea 11.3
13 becker nevus syndrome 11.3
14 mental retardation-hypotonic facies syndrome, x-linked, 1 11.2
15 hemoglobin se disease 11.2
16 fetal hemoglobin quantitative trait locus 5 11.1
17 serotonin syndrome 11.1
18 syringocystadenoma papilliferum 10.6
19 hypophosphatemic rickets, x-linked recessive 10.5
20 rickets 10.5
21 phacomatosis pigmentokeratotica 10.5
22 phakomatosis pigmentokeratotica 10.5
23 lupus erythematosus 10.5
24 atrial standstill 1 10.4
25 systemic lupus erythematosus 10.4
26 adenoma 10.4
27 heart block, congenital 10.3
28 epidermodysplasia verruciformis 1 10.3
29 basal cell carcinoma 1 10.3
30 squamous cell carcinoma 10.3
31 nodular hidradenoma 10.3
32 basal cell carcinoma 10.3
33 cystadenoma 10.3
34 hidrocystoma 10.3
35 hidradenoma 10.3
36 mucoepidermoid carcinoma 10.3
37 sebaceous adenocarcinoma 10.3
38 apocrine adenocarcinoma 10.3
39 spiradenoma 10.3
40 ceruminoma 10.3
41 hemangioma 10.2
42 megalencephaly 10.2
43 cutaneous lupus erythematosus 10.2
44 annular erythema 10.2
45 distal trisomy 9q 10.2
46 optic nerve hypoplasia, bilateral 10.2
47 disorganization, mouse, homolog of 10.2
48 subacute cutaneous lupus erythematosus 10.2
49 lennox-gastaut syndrome 10.1
50 hereditary hypophosphatemic rickets 10.1

Graphical network of the top 20 diseases related to Schimmelpenning-Feuerstein-Mims Syndrome:



Diseases related to Schimmelpenning-Feuerstein-Mims Syndrome

Symptoms & Phenotypes for Schimmelpenning-Feuerstein-Mims Syndrome

Human phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:

60 33 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
5 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
6 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
7 cavernous hemangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001048
8 genu recurvatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002816
9 biparietal narrowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0004422
10 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
11 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
12 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
13 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
14 aplasia/hypoplasia of the cerebellum 60 33 hallmark (90%) Very frequent (99-80%) HP:0007360
15 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
16 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
17 vertebral segmentation defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0003422
18 iris coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000612
19 adenoma sebaceum 60 33 hallmark (90%) Very frequent (99-80%) HP:0009720
20 asymmetric growth 60 33 hallmark (90%) Very frequent (99-80%) HP:0100555
21 abnormality of vision 60 33 frequent (33%) Frequent (79-30%) HP:0000504
22 irregular hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007400
23 facial asymmetry 60 33 frequent (33%) Frequent (79-30%) HP:0000324
24 plagiocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0001357
25 porencephalic cyst 33 frequent (33%) HP:0002132
26 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
27 growth delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001510
28 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
29 dandy-walker malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001305
30 precocious puberty 33 occasional (7.5%) HP:0000826
31 corneal opacity 33 occasional (7.5%) HP:0007957
32 ophthalmoplegia 33 occasional (7.5%) HP:0000602
33 hyperphosphaturia 33 occasional (7.5%) HP:0003109
34 osteopenia 33 HP:0000938
35 short stature 33 HP:0004322
36 ichthyosis 33 HP:0008064
37 abnormality of the eye 60 Frequent (79-30%)
38 horseshoe kidney 33 HP:0000085
39 coarctation of aorta 33 HP:0001680
40 ventriculomegaly 60 Very frequent (99-80%)
41 kyphoscoliosis 33 HP:0002751
42 recurrent fractures 33 HP:0002757
43 abnormality of dental morphology 33 HP:0006482
44 abnormality of finger 33 HP:0001167
45 hemihypertrophy 33 HP:0001528
46 overgrowth 33 HP:0001548
47 abnormality of dental color 33 HP:0011073
48 porencephaly 60 Frequent (79-30%)
49 hypopigmentation of the skin 33 HP:0001010
50 coloboma 33 HP:0000589

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia
recurrent fractures
bone deformities

Growth Height:
short stature

Cardiovascular Vascular:
coarctation of aorta

Skin Nails Hair Skin:
hemangioma
ichthyosis hystrix
linear nevus sebaceous, often in midfacial area
lesions follow the lines of blaschko
nevus unius lateris
more
Neoplasia:
basal cell carcinoma
syringocystadenoma papilliferum
central giant cell granuloma
trichoblastoma

Head And Neck Eyes:
lid lipodermoid
coloboma of eyelids, iris, and choroid
ophthalmoplegia (in some)
corneal clouding (in some)

Skeletal Hands:
finger abnormalities

Skin Nails Hair Hair:
alopecia within lesion

Laboratory Abnormalities:
phosphaturia (in some)
phosphaturia may disappear after a long period of time

Neurologic Central Nervous System:
seizures
mental retardation
neurologic abnormalities in about 7%
hemimegalencephaly

Genitourinary Kidneys:
horseshoe kidney

Skeletal Spine:
kyphoscoliosis

Head And Neck Head:
cranial asymmetry

Growth Other:
growth retardation
asymmetric overgrowth

Head And Neck Teeth:
pigmented, malformed teeth

Skeletal Feet:
toe abnormalities

Endocrine Features:
hypophosphatemic vitamin d-resistant rickets (in some)
precocious puberty (less common)

Clinical features from OMIM:

163200

UMLS symptoms related to Schimmelpenning-Feuerstein-Mims Syndrome:


seizures

GenomeRNAi Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

27 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.29 HRAS KRAS
2 Decreased viability GR00106-A-0 10.29 KRAS
3 Decreased viability GR00221-A-1 10.29 HRAS KRAS NRAS
4 Decreased viability GR00221-A-2 10.29 HRAS KRAS
5 Decreased viability GR00221-A-3 10.29 HRAS NRAS
6 Decreased viability GR00301-A 10.29 KRAS
7 Decreased viability GR00381-A-1 10.29 KRAS
8 Decreased viability GR00402-S-2 10.29 HRAS KRAS NRAS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.86 NRAS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.86 NRAS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.86 HRAS NRAS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.86 HRAS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.86 NRAS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.86 HRAS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.86 HRAS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.83 KRAS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.83 KRAS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 KRAS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 KRAS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.83 HRAS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.83 HRAS KRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.83 KRAS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.83 KRAS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 HRAS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 KRAS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 KRAS
27 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.83 KRAS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.83 HRAS
29 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.83 KRAS
30 Reduced mammosphere formation GR00396-S 8.8 HRAS KRAS NRAS

MGI Mouse Phenotypes related to Schimmelpenning-Feuerstein-Mims Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 HRAS KRAS NRAS
2 neoplasm MP:0002006 9.13 HRAS KRAS NRAS
3 no phenotypic analysis MP:0003012 8.8 HRAS KRAS NRAS

Drugs & Therapeutics for Schimmelpenning-Feuerstein-Mims Syndrome

Drugs for Schimmelpenning-Feuerstein-Mims Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 3,Phase 2
2 Antibodies, Monoclonal Phase 3
3 Antibodies Phase 3,Phase 2
4 Immunologic Factors Phase 3
5 Mitogens Phase 3
6 Pharmaceutical Solutions Phase 2
7
Angiotensin II Approved, Investigational 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
8 Vasodilator Agents
9 Angiotensinogen
10 Angiotensin I (1-7)
11 Antihypertensive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
2 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
3 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 2
4 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993

Search NIH Clinical Center for Schimmelpenning-Feuerstein-Mims Syndrome

Cochrane evidence based reviews: nevus, sebaceous of jadassohn

Genetic Tests for Schimmelpenning-Feuerstein-Mims Syndrome

Anatomical Context for Schimmelpenning-Feuerstein-Mims Syndrome

MalaCards organs/tissues related to Schimmelpenning-Feuerstein-Mims Syndrome:

42
Bone, Eye, Brain, Tongue, Skin, Kidney, Cerebellum

Publications for Schimmelpenning-Feuerstein-Mims Syndrome

Articles related to Schimmelpenning-Feuerstein-Mims Syndrome:

(show top 50) (show all 52)
# Title Authors Year
1
Choroid Osteoma in Schimmelpenning-Feuerstein-Mims Syndrome. ( 30129544 )
2018
2
Dermoscopic Analysis of Nevus Sebaceus of Jadassohn: A Study of 13 Cases. ( 28560218 )
2017
3
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? ( 27398198 )
2016
4
Ceruminous adenoma (ceruminoma) arising in a nevus sebaceus of Jadassohn within the external auditory canal of a 3 year-old boy - A case report. ( 26307545 )
2015
5
Schimmelpenning feuerstein-mims syndrome with isolated enlargement of left temporal lobe. ( 24986195 )
2015
6
Nevus Sebaceus of Jadassohn. ( 26229574 )
2015
7
Secondary neoplasms associated with nevus sebaceus of Jadassohn: a study of 707 cases. ( 24268309 )
2014
8
Therapeutic effects of CO2 laser therapy of linear nevus sebaceous in the course of the Schimmelpenning-Feuerstein-Mims syndrome. ( 24353494 )
2013
9
Squamous cell carcinoma, syringocystadenoma papilliferum and apocrine adenoma arising in a nevus sebaceus of Jadassohn. ( 21393932 )
2011
10
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. ( 20949522 )
2010
11
Pedunculated lesion of the scalp with surrounding long, dark hair in a newborn. Nevus sebaceus of Jadassohn with the hair collar sign. ( 21182643 )
2010
12
Trichoblastomas with Merkel cell proliferation in nevi sebacei in Schimmelpenning-Feuerstein-Mims syndrome--histological differentiation between trichoblastomas and basal cell carcinomas. ( 19192012 )
2009
13
Parenchymal brain cysts in Schimmelpenning-Feuerstein-Mims syndrome. ( 19439869 )
2009
14
Epidermodysplasia verruciformis-associated and genital-mucosal high-risk human papillomavirus DNA are prevalent in nevus sebaceus of Jadassohn. ( 18638629 )
2008
15
Images in clinical medicine. Nevus sebaceus of Jadassohn. ( 18450599 )
2008
16
Sebaceous carcinoma arising in nevus sebaceus of Jadassohn: a clinicopathological study of five cases. ( 17519621 )
2007
17
The ameloblastic fibroodontoma of the maxilla: case report of a child with Schimmelpenning-Feuerstein-Mims syndrome/skin-eye-brain-heart syndrome. ( 16487818 )
2006
18
Nevus sebaceus of Jadassohn. ( 17119437 )
2006
19
Nevus sebaceus of Jadassohn revisited with reconstruction options. ( 15689217 )
2005
20
Development of multiple tumours arising in a nevus sebaceus of Jadassohn. ( 16164741 )
2005
21
Ductal carcinoma arising from a syringocystadenoma papilliferum in a nevus sebaceus of Jadassohn. ( 14631190 )
2003
22
Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. ( 12835555 )
2003
23
Another view regarding ductal carcinoma arising from a syringocystadenoma papilliferum in a nevus sebaceus of Jadassohn: can a dermal component of syringocystadenoma papilliferum be excluded with certainty? ( 14631191 )
2003
24
The sebaceous nevus as part of the Schimmelpenning-Feuerstein-Mims Syndrome--an obvious phacomatosis first documented in 1927. ( 12859747 )
2003
25
Apocrine carcinoma developed in nevus sebaceus of Jadassohn. ( 14693496 )
2003
26
Mucoepidermoid carcinoma arising within nevus sebaceus of Jadassohn. ( 14744092 )
2003
27
Should nevus sebaceus of Jadassohn in children be excised? A study of 757 cases, and literature review. ( 14501324 )
2003
28
Familial occurrence of nevus sebaceus of Jadassohn: another case of paradominant inheritance? ( 11275801 )
2001
29
The role of androgen receptors in the clinical course of nevus sebaceus of Jadassohn. ( 11406653 )
2001
30
Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn. ( 11044814 )
2000
31
Trichoblastoma is the most common neoplasm developed in nevus sebaceus of Jadassohn: a clinicopathologic study of a series of 155 cases. ( 10770429 )
2000
32
Spiradenoma arising in a nevus sebaceus of Jadassohn: case report and literature review. ( 10535577 )
1999
33
Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn). ( 10571348 )
1999
34
Nevus sebaceus of Jadassohn associated with macro optic discs and conjunctival choristoma. ( 9790644 )
1998
35
Tubular apocrine carcinoma arising in a nevus sebaceus of Jadassohn. ( 9700379 )
1998
36
Syringocystadenoma papilliferum, basal cell carcinoma and trichilemmoma arising from nevus sebaceus of Jadassohn. ( 9188887 )
1997
37
Fibroblast-dependent induction of a murine skin lesion similar to human nevus sebaceus of Jadassohn. ( 9042154 )
1997
38
Discordant monozygotic twins with the Schimmelpenning-Feuerstein-Mims syndrome. ( 9007330 )
1996
39
Linear nevus sebaceus of Jadassohn treated with the carbon dioxide laser. ( 8346119 )
1993
40
Familial nevus sebaceus of Jadassohn: occurrence in three generations. ( 2347973 )
1990
41
Nevus sebaceus of Jadassohn: a rare oral presentation. ( 3477768 )
1987
42
Nevus sebaceus of Jadassohn: the head and neck manifestations. ( 3613788 )
1987
43
Apocrine cystadenoma arising in a nevus sebaceus of Jadassohn. ( 6499539 )
1984
44
Multifocal basal-cell carcinomas in the Nevus sebaceus of Jadassohn. ( 7240547 )
1981
45
Pseudomelanoma in nevus sebaceus of Jadassohn. ( 464614 )
1979
46
Malignant neoplasms associated with nevus sebaceus of Jadassohn. ( 528703 )
1979
47
Organoid nevus syndrome (linear nevus sebaceus of Jadassohn): clinical and radiological study of a case. ( 579439 )
1977
48
Nevus sebaceus of Jadassohn with associated syringocystadenoma papilliferum. ( 4375514 )
1971
49
Nevus sebaceus of Jadassohn. Part of a new neurocutaneous syndrome? ( 4969985 )
1968
50
Nevus sebaceus of Jadassohn. Report of a case with multiple and extensive lesions and an unusual linear distribution. ( 5641331 )
1968

Variations for Schimmelpenning-Feuerstein-Mims Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 HRAS p.Gly13Arg VAR_068817 rs104894228

ClinVar genetic disease variations for Schimmelpenning-Feuerstein-Mims Syndrome:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 HRAS NM_176795.4(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh38 Chromosome 11, 533874: 533874
2 HRAS NM_176795.4(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh37 Chromosome 11, 533874: 533874
3 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
4 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
5 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
6 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
7 HRAS NM_176795.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
8 HRAS NM_176795.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
9 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
10 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
11 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
12 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
13 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
14 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
15 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
16 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
17 HRAS NM_005343.4(HRAS): c.520C> T (p.Pro174Ser) single nucleotide variant Benign rs397517144 GRCh37 Chromosome 11, 532686: 532686
18 HRAS NM_005343.4(HRAS): c.520C> T (p.Pro174Ser) single nucleotide variant Benign rs397517144 GRCh38 Chromosome 11, 532686: 532686

Expression for Schimmelpenning-Feuerstein-Mims Syndrome

Search GEO for disease gene expression data for Schimmelpenning-Feuerstein-Mims Syndrome.

Pathways for Schimmelpenning-Feuerstein-Mims Syndrome

Pathways related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 HRAS KRAS NRAS
2
Show member pathways
13.06 HRAS KRAS NRAS
3
Show member pathways
13.05 HRAS KRAS NRAS
4
Show member pathways
13.04 HRAS KRAS NRAS
5
Show member pathways
13.02 HRAS KRAS NRAS
6
Show member pathways
12.96 HRAS KRAS NRAS
7
Show member pathways
12.88 HRAS KRAS NRAS
8
Show member pathways
12.88 HRAS KRAS NRAS
9
Show member pathways
12.86 HRAS KRAS NRAS
10
Show member pathways
12.85 HRAS KRAS NRAS
11
Show member pathways
12.83 HRAS KRAS NRAS
12
Show member pathways
12.81 HRAS KRAS NRAS
13
Show member pathways
12.8 HRAS KRAS NRAS
14
Show member pathways
12.76 HRAS KRAS NRAS
15
Show member pathways
12.75 HRAS KRAS NRAS
16
Show member pathways
12.75 HRAS KRAS NRAS
17
Show member pathways
12.74 HRAS KRAS NRAS
18
Show member pathways
12.73 HRAS KRAS NRAS
19
Show member pathways
12.73 HRAS KRAS NRAS
20
Show member pathways
12.73 HRAS KRAS NRAS
21
Show member pathways
12.72 HRAS KRAS NRAS
22
Show member pathways
12.7 HRAS KRAS NRAS
23
Show member pathways
12.7 HRAS KRAS NRAS
24
Show member pathways
12.69 HRAS KRAS NRAS
25 12.68 HRAS KRAS NRAS
26
Show member pathways
12.67 HRAS KRAS NRAS
27
Show member pathways
12.65 HRAS KRAS NRAS
28
Show member pathways
12.65 HRAS KRAS NRAS
29 12.62 HRAS KRAS NRAS
30
Show member pathways
12.61 HRAS KRAS NRAS
31
Show member pathways
12.6 HRAS KRAS NRAS
32
Show member pathways
12.59 HRAS KRAS NRAS
33
Show member pathways
12.58 HRAS KRAS NRAS
34
Show member pathways
12.57 HRAS KRAS NRAS
35
Show member pathways
12.54 HRAS KRAS NRAS
36
Show member pathways
12.54 HRAS KRAS NRAS
37
Show member pathways
12.53 HRAS KRAS NRAS
38
Show member pathways
12.53 HRAS KRAS NRAS
39 12.5 HRAS KRAS NRAS
40
Show member pathways
12.48 HRAS KRAS NRAS
41
Show member pathways
12.47 HRAS KRAS NRAS
42
Show member pathways
12.47 HRAS KRAS NRAS
43
Show member pathways
12.41 HRAS KRAS NRAS
44 12.4 HRAS KRAS NRAS
45
Show member pathways
12.39 HRAS KRAS NRAS
46
Show member pathways
12.38 HRAS KRAS NRAS
47
Show member pathways
12.36 HRAS KRAS NRAS
48
Show member pathways
12.34 HRAS KRAS NRAS
49
Show member pathways
12.33 HRAS KRAS NRAS
50
Show member pathways
12.33 HRAS KRAS NRAS

GO Terms for Schimmelpenning-Feuerstein-Mims Syndrome

Biological processes related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.43 HRAS KRAS
2 MAPK cascade GO:0000165 9.43 HRAS KRAS NRAS
3 negative regulation of neuron apoptotic process GO:0043524 9.4 HRAS KRAS
4 positive regulation of MAP kinase activity GO:0043406 9.37 HRAS KRAS
5 regulation of long-term neuronal synaptic plasticity GO:0048169 9.32 HRAS KRAS
6 response to isolation stress GO:0035900 9.16 HRAS KRAS
7 Ras protein signal transduction GO:0007265 9.13 HRAS KRAS NRAS
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 8.8 HRAS KRAS NRAS

Molecular functions related to Schimmelpenning-Feuerstein-Mims Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.33 HRAS KRAS NRAS
2 GDP binding GO:0019003 9.26 HRAS KRAS
3 GTP binding GO:0005525 9.13 HRAS KRAS NRAS
4 GTPase activity GO:0003924 8.8 HRAS KRAS NRAS

Sources for Schimmelpenning-Feuerstein-Mims Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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