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Gene: Mir205 MGI:2676880

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
microRNA 205
Synonyms:
mmu-mir-205,  Mirn205

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mir205 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mir205 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Dermoodontodysplasia
Dry skin, Thin skin OMIM:125640
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Amyloidosis, Primary Localized Cutaneous, 3
Hypopigmented macule, Dry skin, Hypermelanotic macule OMIM:617920
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Ulerythema Ophryogenesis
Dry skin, Facial erythema, Hyperkeratotic papule, Dermal atrophy, Erythematous papule ORPHA:3406
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Huriez Syndrome
Aplasia/Hypoplasia of the skin, Dry skin, Lack of skin elasticity ORPHA:384
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... ORPHA:505
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Petechiae, Thin skin, Striae distensae OMIM:225310
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Purpura ORPHA:745
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Acrogeria
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Dermoodontodysplasia
Dry skin, Thin skin, Melanocytic nevus ORPHA:1660
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin ORPHA:1658
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Acquired Ichthyosis
Papule, Erythema, Dry skin ORPHA:454
Spinocerebellar Ataxia Type 34
Macule, Dry skin, Papule ORPHA:1955
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Ichthyosis Vulgaris
Dry skin OMIM:146700
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Pseudoprogeria Syndrome
Failure to thrive, Thin skin, Decreased body weight ORPHA:2985
Erythrokeratodermia Variabilis
Macule, Hypermelanotic macule, Erythema, Weight loss, Dry skin ORPHA:317
Spermatogenic Failure 75
Elevated circulating follicle stimulating hormone level OMIM:619949
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Erythematous plaque, Thin skin, Dermal atrophy, Milia ORPHA:158673
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Stillbirth, Thin skin OMIM:259410
Uv-Sensitive Syndrome 3
Dry skin OMIM:614640
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin ORPHA:530838
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Dry skin, Aplasia cutis congenita of scalp OMIM:600906
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Ovarian Dysgenesis 1
Increased circulating gonadotropin level OMIM:233300
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin, Thin skin OMIM:617364
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Classic Mycosis Fungoides
Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Dry skin ORPHA:2584
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Skin dimple, Failure to thrive, Thin skin ORPHA:261304
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Congenital Lethal Erythroderma
Failure to thrive, Dry skin ORPHA:1954
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema OMIM:212360
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Thin skin ORPHA:157965
Familial Cervical Artery Dissection
Thin skin, Striae distensae ORPHA:36382
Uv-Sensitive Syndrome 1
Dry skin OMIM:600630
Xeroderma Pigmentosum Variant
Dry skin, Dermal atrophy ORPHA:90342
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Erythema, Periauricular skin pits, Atrophic scars, Skin pit, Hyp... ORPHA:79100
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Superficial Epidermolytic Ichthyosis
Erythema, Thin skin ORPHA:455
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Ataxia-Photosensitivity-Short Stature Syndrome
Dry skin ORPHA:1184
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Fetal Encasement Syndrome
Thin skin OMIM:613630
Familial Melanoma
Dry skin, Nevus ORPHA:618
Leopard Syndrome 2
Cafe-au-lait spot, Dry skin, Multiple lentigines, Webbed neck OMIM:611554
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Dry skin, Increased body weight OMIM:614450
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
19Q13.11 Microdeletion Syndrome
Cachexia, Dry skin, Thin skin, Aplasia cutis congenita, Failure to thrive ORPHA:217346
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Atrophic scars, Thin skin, Cutis laxa ORPHA:75496
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Dry skin, Obesity ORPHA:3085
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
Riddle Syndrome
Dry skin OMIM:611943
Silver-Russell Syndrome 2
Thin skin OMIM:618905
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Erythema, Skin ulcer, Thin skin, Dry skin, Papule ORPHA:742
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair,... OMIM:607903
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:2028
Pituitary Adenoma 4, Acth-Secreting
Obesity, Facial erythema, Abdominal obesity, Thin skin, Ecchymosis, Striae distensae, Purpura OMIM:219090
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Atypical scarring o... ORPHA:1366
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618096
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Thin skin ORPHA:1810
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
Noonan Syndrome 5
Large for gestational age, Dry skin, Webbed neck, Multiple lentigines, Nevus, Cafe-au-lait spot OMIM:611553
Leopard Syndrome 3
Few cafe-au-lait spots, Numerous nevi, Multiple lentigines, Webbed neck, Dry skin OMIM:613707
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Cutis Laxa, Autosomal Recessive, Type Iiia
Failure to thrive, Thin skin, Cutis laxa OMIM:219150
Grubben-De Cock-Borghgraef Syndrome
Dry skin ORPHA:2101
Recessive X-Linked Ichthyosis
Dry skin ORPHA:461
Sjögren-Larsson Syndrome
Erythema, Dry skin ORPHA:816
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, Thin skin, Webbed neck OMIM:612350
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Thin skin, Striae distensae OMIM:219080
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin OMIM:612952
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Thin skin, Striae distensae OMIM:610475
Microcephalic Primordial Dwarfism, Montreal Type
Dry skin, Shagreen patch ORPHA:2617
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Decreased serum estradiol, Elevated cir... OMIM:618187
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin, Obesity ORPHA:1035
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Ddost-Cdg
Failure to thrive, Dry skin ORPHA:300536
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Skin ulcer ORPHA:1114
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Small for gestational age OMIM:616943
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Ovarian Dysgenesis 3
Aplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:614324
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... OMIM:620103
Phenylketonuria
Dry skin OMIM:261600
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Atelis Syndrome 1
Cafe-au-lait spot, Dry skin OMIM:620184
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Dry skin, Spotty hypopigmentation OMIM:300860
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Dry skin ORPHA:486815
Peeling Skin Syndrome 6
Dry skin, Scaling skin OMIM:618084
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Failure to thrive, Milia, Congenital localized absence of skin OMIM:226700
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... OMIM:619208
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Dry skin, Cutis laxa OMIM:612379
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Dry skin OMIM:129490
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Thin skin OMIM:166210
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Hypomelanotic macule, Scaling skin, Hypermelanotic macule OMIM:618373
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:2348
Recon Progeroid Syndrome
Dry skin, Scaling skin, Thin skin OMIM:620370
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Thin skin, Striae distensae OMIM:610489
Adult Syndrome
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Adiposis Dolorosa
Subcutaneous nodule, Dry skin, Obesity ORPHA:36397
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
Short Syndrome
Premature skin wrinkling, Small for gestational age, Thin skin OMIM:269880
Focal Facial Dermal Dysplasia Type I
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita ORPHA:79133
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Dry skin, Scaling skin, Cutis laxa ORPHA:2269
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Cutis Laxa, Autosomal Recessive, Type Iiib
Excessive wrinkled skin, Thin skin, Cutis laxa, Dermal translucency OMIM:614438
Marshall-Smith Syndrome
Failure to thrive, Thin skin ORPHA:561
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Dry skin, Thin skin ORPHA:238468
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Scarring alopecia of scalp, Dry skin, Facial erythema OMIM:308800
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:79083
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin OMIM:617066
Pili Torti-Onychodysplasia Syndrome
Keloids, Dry skin ORPHA:2890
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Scaling skin OMIM:614457
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita OMIM:612138
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Xeroderma Pigmentosum
Macule, Failure to thrive, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Melanocyt... ORPHA:910
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita ORPHA:79402
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin, Small for gestational age OMIM:262190
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Dry skin, Scaling skin OMIM:609180
Distal Duplication 6P
Sacral dimple, Dry skin ORPHA:1745
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Dry skin, Thin skin ORPHA:1812
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Adult Syndrome
Dermal atrophy, Dry skin, Thin skin OMIM:103285
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Obesity OMIM:620191
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Bone Marrow Failure Syndrome 4
Dry skin OMIM:618116
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Atrophic scars, Thin skin OMIM:130080
Schopf-Schulz-Passarge Syndrome
Dry skin OMIM:224750
Acrodermatitis Enteropathica
Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive ORPHA:37
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Dermal atrophy OMIM:617294
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Hatipoglu Immunodeficiency Syndrome
Failure to thrive, Dry skin, Petechiae, Hyperpigmented/hypopigmented macules OMIM:620331
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin OMIM:201170
Geroderma Osteodysplastica
Redundant skin, Thin skin ORPHA:2078
Radio-Tartaglia Syndrome
Dry skin, Obesity, Striae distensae OMIM:619312
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin, Large for gestational age ORPHA:226313
Noonan Syndrome 13
Cafe-au-lait spot, Dry skin, Multiple lentigines, Webbed neck OMIM:619087
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Squalene Synthase Deficiency
Dry skin, Failure to thrive in infancy OMIM:618156
Rhizomelic Chondrodysplasia Punctata
Dry skin ORPHA:177
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
De Barsy Syndrome
Cutis laxa, Excessive wrinkled skin, Thin skin, Failure to thrive, Dermal translucency ORPHA:2962
Focal Dermal Hypoplasia
Macule, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Erythema, Thin skin, De... ORPHA:2092
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, Lack of skin elasticity, Thin skin ORPHA:90153
Chromosome 19Q13.11 Deletion Syndrome, Distal
Failure to thrive, Dry skin, Aplasia cutis congenita of scalp OMIM:613026
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:614129
Xfe Progeroid Syndrome
Failure to thrive, Dry skin, Dermal atrophy, Cachexia OMIM:610965
Premature Aging Syndrome, Penttinen Type
Skin nodule, Thin skin, Dermal atrophy, Keloids, Failure to thrive OMIM:601812
Complex Regional Pain Syndrome
Erythema, Dry skin ORPHA:83452
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Preauricular pit, Failure to thrive, Thin skin, Webbed neck, Cafe-au-lait spot, Dermal translucency OMIM:617506
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Dry skin OMIM:618535
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Dry skin OMIM:614576
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin ORPHA:95715
Congenital Heart Defects And Skeletal Malformations Syndrome
Failure to thrive, Thin skin OMIM:617602
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity ORPHA:313
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Thin skin ORPHA:1901
Bachmann-Bupp Syndrome
Dry skin, Large for gestational age OMIM:619075
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Dermal atrophy, Cachexia ORPHA:220295
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin OMIM:607823
Omenn Syndrome
Failure to thrive, Dry skin ORPHA:39041
Jung Syndrome
Dry skin ORPHA:2321
Rapp-Hodgkin Syndrome
Dry skin, Thin skin OMIM:129400
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Nodular Non-Suppurative Panniculitis
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Erythema, Weight loss ORPHA:33577
Alg11-Cdg
Failure to thrive, Dry skin ORPHA:280071
Ichthyosis, Congenital, Autosomal Recessive 6
Dry skin, Scaling skin OMIM:612281
Tooth Agenesis, Selective, 4
Dry skin, Thin skin OMIM:150400
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin OMIM:617388
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cafe-au-lait spot, Thin skin OMIM:617804
Xp22.3 Microdeletion Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin ORPHA:1643
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level OMIM:617442
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:230851
Lichen Planopilaris
Dermal atrophy, Papule, Hypopigmented skin patches, Skin ulcer ORPHA:525
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Redundan... ORPHA:1807
Ameloonychohypohidrotic Syndrome
Dry skin OMIM:104570
Hereditary Acrokeratotic Poikiloderma
Erythema, Hypopigmented skin patches, Skin ulcer, Thin skin, Papule ORPHA:2907
Tangier Disease
Dry skin OMIM:205400
Amelo-Onycho-Hypohidrotic Syndrome
Dry skin ORPHA:1028
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin OMIM:268020
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Thin skin OMIM:615895
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Dry skin OMIM:618282
Mandibuloacral Dysplasia
Thin skin ORPHA:2457
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Dry skin, Periorbital wrinkles, Hypoplastic-absent sebaceous glands, Thin skin OMIM:305100
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin ORPHA:280365
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Redundant skin, Excessive wrinkled skin, Multiple lentigines, Webbe... ORPHA:1340
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Kaufman Oculocerebrofacial Syndrome
Preauricular skin tag, Failure to thrive, Thin skin OMIM:244450
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Arterial Tortuosity Syndrome
Thin skin, Cutis laxa OMIM:208050
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin ORPHA:449291
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90154
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dry skin OMIM:610768
Hydroxykynureninuria
Dry skin ORPHA:79155
Stuve-Wiedemann Syndrome 1
Premature skin wrinkling, Milia, Thin skin OMIM:601559
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Truncal obesity, Dry skin, Hypopigmented skin patches ORPHA:2637
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Cachexia, Weight loss ORPHA:1979
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thin skin, Dermal translucency OMIM:612199
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Uremic Pruritus
Dry skin, Papule ORPHA:94059
Sézary Syndrome
Dry skin ORPHA:3162
Stiff Skin Syndrome
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lack of skin elasticity ORPHA:2833
Adams-Oliver Syndrome 4
Aplasia cutis congenita OMIM:615297
Glass Syndrome
Thin skin OMIM:612313
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp OMIM:619817
Androgen Insensitivity Syndrome
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300068
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Dry skin, Redundant skin, Thin skin ORPHA:920
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Milia ORPHA:69087
Agel Amyloidosis
Dry skin, Diffuse skin atrophy, Cutis laxa ORPHA:85448
Den Hoed-De Boer-Voisin Syndrome
Overweight, Dry skin, Obesity, Decreased body weight OMIM:619229
Septo-Optic Dysplasia Spectrum
Dry skin, Obesity ORPHA:3157
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Thin skin, Dermal translucency ORPHA:536467
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Dry skin, Failure to thrive in infancy ORPHA:261323
Koolen-De Vries Syndrome
Failure to thrive, Sacral dimple, Dry skin, Small for gestational age OMIM:610443
9P13 Microdeletion Syndrome
Cafe-au-lait spot, Dry skin ORPHA:324313
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... ORPHA:79480
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Noonan Syndrome 14
Dry skin, Webbed neck OMIM:619745
Cushing Disease
Increased body weight, Skin ulcer, Truncal obesity, Abdominal obesity, Thin skin, Ecchymosis, Str... ORPHA:96253
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Arterial Tortuosity Syndrome
Redundant skin, Thin skin ORPHA:3342
Aicardi-Goutieres Syndrome 9
Failure to thrive, Dry skin, Weight loss OMIM:619487
Juvenile Dermatomyositis
Erythema, Dry skin, Skin ulcer, Weight loss ORPHA:93672
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:100
Refsum Disease
Dry skin ORPHA:773
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Thin skin, Cutis laxa OMIM:151050
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin OMIM:618797
Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Numerous nevi, Thin skin, Cutis laxa ORPHA:536471
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Palmoplantar cutis laxa, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin OMIM:225400
Netherton Syndrome
Dry skin ORPHA:634
Flynn-Aird Syndrome
Cachexia, Dermal atrophy, Skin ulcer ORPHA:2047
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Scaling skin OMIM:616295
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin OMIM:618527
Trichothiodystrophy 1, Photosensitive
Dry skin, Small for gestational age OMIM:601675
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Meier-Gorlin Syndrome 1
Failure to thrive, Small for gestational age, Thin skin OMIM:224690
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
Self-Improving Dystrophic Epidermolysis Bullosa
Aplasia cutis congenita, Atrophic scars, Skin erosion, Milia ORPHA:79411
Localized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... ORPHA:251393
Orthostatic Hypotension 1
Reduced circulating prolactin concentration OMIM:223360
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Skin fissure, Dry skin, Scaling skin, Facial erythema ORPHA:1010
Osteogenesis Imperfecta, Type I
Thin skin OMIM:166200
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin OMIM:619244
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Failure to thrive, Thin skin, Cutis laxa OMIM:266920
Oculocerebral Hypopigmentation Syndrome, Cross Type
Thin skin ORPHA:2719
Late-Onset Isolated Acth Deficiency
Failure to thrive, Dry skin, Weight loss ORPHA:199299
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Hallermann-Streiff Syndrome
Dry skin, Small for gestational age, Dermal atrophy OMIM:234100
Dermatomyositis
Aplasia/Hypoplasia of the skin, Erythema, Skin ulcer, Weight loss, Dry skin, Papule ORPHA:221
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Facial wrinkling, Dry skin, Thin skin, Failure to thrive OMIM:606721
Koolen-De Vries Syndrome
Dry skin ORPHA:96169
Barber-Say Syndrome
Redundant skin, Dermal atrophy, Premature skin wrinkling, Dry skin, Dermal translucency OMIM:209885
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin OMIM:614940
Fucosidosis
Failure to thrive, Dry skin, Petechiae OMIM:230000
Helsmoortel-Van Der Aa Syndrome
Truncal obesity, Failure to thrive, Thin skin, Obesity OMIM:615873
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Thin skin OMIM:200110
Perrault Syndrome 1
Increased circulating gonadotropin level OMIM:233400
Arthrogryposis And Ectodermal Dysplasia
Atypical scarring of skin, Dry skin OMIM:601701
Cockayne Syndrome B
Small for gestational age, Dry skin, Atypical scarring of skin, Dermal atrophy, Severe failure to... OMIM:133540
Atypical Werner Syndrome
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Skin ulcer, Thin skin, Decreased body we... ORPHA:79474
Restrictive Dermopathy 1
Stillbirth, Scaling skin, Thin skin, Neonatal death, Skin erosion OMIM:275210
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Dry skin OMIM:607626
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Dry skin, Periorbital wrinkles OMIM:614941
Atopic Keratoconjunctivitis
Dry skin ORPHA:163934
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Small for gestational age, Scaling skin OMIM:618419
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Dry skin ORPHA:90674
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Chand Syndrome
Skin erosion, Commissural lip pit, Dry skin ORPHA:1401
Linear Skin Defects With Multiple Congenital Anomalies 2
Aplasia cutis congenita, Asymmetric, linear skin defects OMIM:300887
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:261534
Intellectual Developmental Disorder, Autosomal Dominant 54
Dry skin, Small for gestational age OMIM:617799
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Subcutaneous nodule, Dry skin ORPHA:508542
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Dry skin OMIM:614008
Odontoonychodermal Dysplasia
Palmoplantar erythema, Erythema, Dry skin OMIM:257980
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Dry skin, Thin skin, Premature skin wrinkling, Failure to thrive OMIM:264090
Acute Adrenal Insufficiency
Failure to thrive, Dry skin, Weight loss ORPHA:95409
Dyskeratosis Congenita, Autosomal Dominant 3
Dry skin OMIM:613990
Adams-Oliver Syndrome 3
Aplasia cutis congenita OMIM:614814
Rabson-Mendenhall Syndrome
Dry skin, Lichenoid skin lesion ORPHA:769
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Eec Syndrome
Aplasia/Hypoplasia of the skin, Dry skin, Nevus ORPHA:1896
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
Cranioectodermal Dysplasia 3
Dry skin, Cutis laxa OMIM:614099
Syndromic Diarrhea
Cafe-au-lait spot, Dry skin, Small for gestational age ORPHA:84064
Kyphoscoliotic Ehlers-Danlos Syndrome
Atypical scarring of skin, Thin skin ORPHA:536545
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Testicular dysgenesis, Decreased serum es... ORPHA:168563
Loeys-Dietz Syndrome
Atypical scarring of skin, Thin skin, Striae distensae ORPHA:60030
Dubowitz Syndrome
Sacral dimple, Dry skin ORPHA:235
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Skin ulcer, Weight loss, Truncal obesity, Abdominal obesity, Thin skin, Ec... ORPHA:99889
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... OMIM:400044
Trichothiodystrophy
Dry skin ORPHA:33364
Hajdu-Cheney Syndrome
Failure to thrive, Dry skin, Skin ulcer ORPHA:955
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Subcutaneous nodule, Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Dry skin, Large for gestational age, Webbed neck OMIM:280000
Helix Syndrome
Dry skin OMIM:617671
Subacute Cutaneous Lupus Erythematosus
Annular cutaneous lesion, Psoriasiform lesion, Dermal atrophy ORPHA:163525
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin OMIM:619306
Warburg-Cinotti Syndrome
Erythema, Thin skin OMIM:618175
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Dry skin OMIM:612132
X-Linked Intellectual Disability, Nascimento Type
Preauricular pit, Dry skin ORPHA:163956
Cockayne Syndrome A
Atypical scarring of skin, Failure to thrive, Dry skin OMIM:216400
Barber-Say Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Redundant skin ORPHA:1231
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Skin erosion, Aplasia cutis congenita OMIM:609638
Limb-Mammary Syndrome
Multiple cafe-au-lait spots, Dry skin, Psoriasiform dermatitis ORPHA:69085
49,Xyyyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:99330
Orofaciodigital Syndrome Type 1
Dry skin, Milia, Lip pit ORPHA:2750
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... ORPHA:347
Bartsocas-Papas Syndrome 1
Skin tags, Dry skin OMIM:263650
Wiedemann-Rautenstrauch Syndrome
Thin skin, Premature skin wrinkling, Failure to thrive, Slender build, Dermal translucency ORPHA:3455
Oculocerebrocutaneous Syndrome
Skin tags, Preauricular skin tag, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1647
Addison Disease
Failure to thrive, Dry skin, Weight loss ORPHA:85138
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... ORPHA:755
Scalp-Ear-Nipple Syndrome
Aplasia cutis congenita, Dry skin OMIM:181270
Menkes Disease
Atypical scarring of skin, Dry skin ORPHA:565
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Hoyeraal-Hreidarsson Syndrome
Excessive wrinkled skin, Failure to thrive, Dermal atrophy ORPHA:3322
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... ORPHA:672
Acrofacial Dysostosis, Palagonia Type
Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1787
Complete Androgen Insensitivity Syndrome
Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, In... ORPHA:99429
Werner Syndrome
Aplasia/Hypoplasia of the skin, Slender build, Lack of skin elasticity, Skin ulcer ORPHA:902
Immunodeficiency 55
Dry skin OMIM:617827
Autosomal Dominant Hypocalcemia
Dry skin ORPHA:428
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dermal atrophy, Lack of skin elasticity OMIM:615381
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the ovary, Decreased serum estradiol OMIM:615300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Thin skin OMIM:129900
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca... ORPHA:158684
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Decreased serum estradiol, Delayed puberty ORPHA:243
Primary Sjögren Syndrome
Dry skin, Lichenoid skin lesion, Skin ulcer, Purpura ORPHA:289390
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Curry-Jones Syndrome
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches ORPHA:1553
Noonan Syndrome 1
Cafe-au-lait spot, Dry skin, Failure to thrive in infancy, Webbed neck OMIM:163950
Adams-Oliver Syndrome
Aplasia cutis congenita, Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:974
Acute Radiation Syndrome
Dermal atrophy, Scaling skin, Skin ulcer ORPHA:454831
Vascular Ehlers-Danlos Syndrome
Macule, Redundant skin, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Excessive ... ORPHA:286
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Few cafe-au-lait spots, Sacral dimple, Failure to thrive, Erythema, Cutis laxa, Facial erythema, ... OMIM:619503
Blau Syndrome
Papule, Erythema, Dry skin, Skin ulcer ORPHA:90340
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Skin erosion, Atypical scarring of skin, Nevus, Aplasia cutis congenita, Decre... ORPHA:89842
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
Kanzaki Disease
Dry skin, Petechiae OMIM:609242
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Failure to thrive, Dry skin, Stillbirth OMIM:210710
Hypermobile Ehlers-Danlos Syndrome
Atypical scarring of skin, Subcutaneous nodule, Thin skin ORPHA:285
Tangier Disease
Dry skin ORPHA:31150
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Lyme Disease
Skin nodule, Dermal atrophy ORPHA:91546
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Erythema, Atrophic scars, Aplasia cutis congenita, Fai... ORPHA:79396
Desmosterolosis
Failure to thrive, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:35107
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Autosomal Recessive Multiple Pterygium Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin, Nevus, Webbed neck ORPHA:2990
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Aicardi-Goutières Syndrome
Dry skin ORPHA:51
Xeroderma Pigmentosum, Complementation Group A
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus OMIM:278700
Cutis Marmorata Telangiectatica Congenita
Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, Skin erosion, Purpura ORPHA:1556
47,Xyy Syndrome
Macroorchidism, Cryptorchidism, Increased circulating gonadotropin level, Increased serum testost... ORPHA:8
Trichorhinophalangeal Syndrome, Type Ii
Redundant skin in infancy, Dry skin, Nevus, Cutis laxa OMIM:150230
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin OMIM:218700
Plague
Localized skin lesion, Dry skin, Skin ulcer ORPHA:707
Dysosteosclerosis
Aplasia/Hypoplasia of the skin ORPHA:1782
Dyskeratosis Congenita
Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u... ORPHA:1775
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Decreased serum testosterone concentr... ORPHA:325124
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:2232
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
46,Xy Partial Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Elevate... ORPHA:251510
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Neonatal death, Dry skin, Perianal erythema, Scaling skin OMIM:308205
Malignant Atrophic Papulosis
Dermal atrophy, Papule, Weight loss ORPHA:679
Exercise-Induced Malignant Hyperthermia
Dry skin ORPHA:466650
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Hyperpigmented papule, Failure to thrive, Dry skin, Skin plaque ORPHA:99646
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Toriello-Lacassie-Droste Syndrome
Failure to thrive, Aplasia/Hypoplasia of the skin ORPHA:3339
Hereditary Sensory And Autonomic Neuropathy Type 4
Atypical scarring of skin, Dry skin ORPHA:642
Alzahrani-Kuwahara Syndrome
Dry skin OMIM:619268
Linear Skin Defects With Multiple Congenital Anomalies 3
Asymmetric, linear skin defects, Failure to thrive OMIM:300952
Adams-Oliver Syndrome 5
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita OMIM:616028
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypoplastic pilosebaceous units OMIM:601345
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Aplasia/Hypoplasia of the skin, Erythema, Hypopigmented skin patches, Dermal atrop... ORPHA:2556
Xeroderma Pigmentosum, Complementation Group E
Dermal atrophy OMIM:278740
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Erythema, Milia ORPHA:2908
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the skin, Small for gestational age ORPHA:2909
Xeroderma Pigmentosum, Variant Type
Dermal atrophy OMIM:278750
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level OMIM:110100
Xeroderma Pigmentosum, Complementation Group C
Dermal atrophy OMIM:278720
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the skin, Redundant skin ORPHA:2658
Kindler Syndrome
Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy OMIM:173650
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, Increased circ... ORPHA:1772
Restrictive Dermopathy
Dermal atrophy, Scaling skin, Webbed neck, Skin erosion, Dermal translucency ORPHA:1662
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mir205

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mir205.

No publications found that use IMPC mice or data for Mir205.

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