Autoimmunity, and Overgrowth

Diseases related with Autoimmunity and Overgrowth

In the following list you will find some of the most common rare diseases related to Autoimmunity and Overgrowth that can help you solving undiagnosed cases.


Top matches:

Medium match HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY


Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Related symptoms:

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

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Other less relevant matches:

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS


Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.

Related symptoms:

  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Skin rash
  • Overgrowth


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS

Low match POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY


Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy|corneal endothelial dystrophy 1, autosomal dominant, formerly|ppcd|ched1, formerly|posterior polymorphous dystrophy|maumenee corneal dystrophy|posterior polymorphous corneal dystrophy|corneal dystrophy, hereditary polymorphous poster

Related symptoms:

  • Edema
  • Glaucoma
  • Photophobia
  • Corneal opacity
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

Low match FIBROMATOSIS, GINGIVAL, 5; GINGF5


Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by Pehlivan et al., 2009).

FIBROMATOSIS, GINGIVAL, 5; GINGF5 Is also known as ggf5|hgf5|fibromatosis, gingival, hereditary, 5

Related symptoms:

  • Short stature
  • Hernia
  • Osteoporosis
  • Respiratory tract infection
  • Overgrowth


SOURCES: OMIM MENDELIAN

More info about FIBROMATOSIS, GINGIVAL, 5; GINGF5

Low match EPIDERMOLYTIC PALMOPLANTAR KERATODERMA


Palmoplantar keratoderma (PPK) is a common hereditary cutaneous disorder characterized by marked hyperkeratosis on the surface of palms and soles (Hennies et al., 1995). PPK has been classified into diffuse, focal, and punctate forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). Diffuse PPK develops at birth or shortly thereafter and involves the entire palm and sole with a sharp cutoff at an erythematous border; there are no lesions outside the volar skin, and, in particular, no follicular or oral lesions. In contrast, focal PPK is a late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis (Stevens et al., 1996). Palmoplantar keratodermas can be further subdivided histologically into epidermolytic and nonepidermolytic PPK (Risk et al., 1994). Genetic Heterogeneity of Palmoplantar KeratodermaNonepidermolytic palmoplantar keratoderma (NEPPK ) is caused by mutation in the KRT1 gene. A focal form of NEPPK (FNEPPK1 ) is caused by mutation in the KRT16 gene (OMIM ). Another focal form, FNEPPK2 (OMIM ), is caused by mutation in the TRPV3 gene (OMIM ); mutation in TRPV3 can also cause Olmsted syndrome (OLMS ), a severe mutilating form of PPK. The diffuse Bothnian form of NEPPK (PPKB ) is caused by mutation in the AQP5 gene (OMIM ). The Nagashima type of nonepidermolytic diffuse PPK (PPKN ) is caused by mutation in the SERPINB7 gene (OMIM ).A generalized form of epidermolytic hyperkeratosis (EHK ), also designated bullous congenital ichthyosiform erythroderma (BCIE), is caused by mutation in the keratin genes KRT1 and KRT10 (OMIM ).For a discussion of punctate PPK, see {148600}; for a discussion of striate PPK, see {148700}.

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA Is also known as eppk|keratosis palmaris et plantaris familiaris|diffuse erythrodermic palmoplantar keratoderma, vÖrner type|epidermolytic palmoplantar keratoderma of voerner|keratosis of greither|ppke|epidermolytic palmoplantar keratoderma of vÖrner|diffuse erythrodermic

Related symptoms:

  • Neoplasm
  • Abnormality of the dentition
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

Top 5 symptoms//phenotypes associated to Autoimmunity and Overgrowth

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Tall stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Overgrowth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Intestinal polyposis Scoliosis Hamartomatous polyposis Nevus Intellectual disability Dilatation Hyperhidrosis Gynecomastia

Rare Symptoms - Less than 30% cases


Joint hyperflexibility Goiter Hamartoma Multiple cafe-au-lait spots Multiple lipomas Abnormality of the thyroid gland Cutis marmorata Intracranial hemorrhage Palmoplantar hyperkeratosis Neoplasm of the skin Ovarian neoplasm Cafe-au-lait spot Telangiectasia Subcutaneous nodule Broad thumb Lymphoma Palmoplantar keratoderma Hyperkeratosis Joint hypermobility Hyperthyroidism Prolactin excess Lipoma Edema Arthritis Umbilical hernia Arthralgia Osteoporosis Angina pectoris Abnormality of the dentition Gingival overgrowth Nephrolithiasis Erythema Epidermal acanthosis Hirsutism Hypothyroidism Macrotia Ovarian cyst Congestive heart failure Arteriovenous malformation Meningioma Bone cyst Hashimoto thyroiditis Pectus excavatum Macrocephaly Muscle weakness Pain Myopathy Intellectual disability, mild Hearing impairment Frontal bossing Global developmental delay Skeletal muscle atrophy Hypoglycemia Recurrent infections Cognitive impairment Decreased serum leptin Reduced intrathoracic adipose tissue Hiatus hernia Gingival fibromatosis Decreased fertility in females Clinodactyly Diastema Erythroderma Eczema Insulin-resistant diabetes mellitus at puberty Clubbing Congenital generalized lipodystrophy Prominent umbilicus Abnormality of the fingernails Labial hypertrophy Cystic angiomatosis of bone Infertility Nephrocalcinosis Aspiration Decreased liver function Primary amenorrhea Amenorrhea Abnormality of the sternum Abdominal distention Facial asymmetry Acute pancreatitis Synophrys Hyperactivity Hypogonadism Vomiting Blindness Depressed nasal bridge Abnormal facial shape Generalized muscular appearance from birth Generalized lipodystrophy Long foot Glioma Hepatic steatosis Congenital bullous ichthyosiform erythroderma Abnormality of the genital system Hypertrichosis Hypertriglyceridemia Palmoplantar blistering Triangular face Nephropathy Nonepidermolytic palmoplantar keratoderma Accelerated skeletal maturation Cirrhosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Hepatosplenomegaly Palmoplantar erythema Mandibular prognathia Diabetes mellitus Splenomegaly Insulin resistance Acanthosis nigricans Abnormality of the ovary Lipoatrophy Congenital ichthyosiform erythroderma Elevated alkaline phosphatase Oligomenorrhea Follicular hyperkeratosis Verrucae Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Polyphagia Hyperlipidemia High pitched voice Increased IgE level Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Polycystic ovaries Hypercalciuria Adrenal insufficiency Precocious puberty Delayed gross motor development Increased intraocular pressure Thyroid carcinoma Abnormality of the optic nerve Capillary hemangioma Irregular hyperpigmentation Aortic aneurysm Cachexia Narrow palate Neoplasm of the breast Ectopia pupillae Anterior synechiae of the anterior chamber Lymphedema Wide nose Dolichocephaly Neurological speech impairment Delayed skeletal maturation Visceral angiomatosis Keratoconus Band keratopathy Skin rash Corneal opacity Photophobia Glaucoma Seborrheic dermatitis Parakeratosis Psoriasiform dermatitis Inflammatory abnormality of the skin Corneal dystrophy Keratitis Ectropion Epiphora Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Abdominal wall muscle weakness Subcutaneous hemorrhage Iris atrophy Long philtrum Hypercalcemia Hyperparathyroidism Osteomyelitis Osteosarcoma Pituitary adenoma Increased circulating cortisol level Syringomyelia Growth hormone excess Osteomalacia Freckling Respiratory tract infection Pathologic fracture Neurofibromas Hypophosphatemia Falls Hyperostosis Acne Rickets Recurrent upper respiratory tract infections Pituitary hypothyroidism Short nose Hepatomegaly Corneal stromal edema Anteverted nares Thinning of Descemet membrane Uveal ectropion Muscular hypotonia Monostotic fibrous dysplasia Large cafe-au-lait macules with irregular margins Precocious puberty in females Craniofacial hyperostosis Abnormal Descemet membrane morphology Polyostotic fibrous dysplasia Thyroid nodule Polymorphous posterior corneal dystrophy Axillary freckling Myelofibrosis Multinodular goiter Pseudohypoparathyroidism Cardiomyopathy Hyperextensible skin Peripheral neuropathy Exotropia Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Lymphopenia Chronic diarrhea Incoordination Intention tremor Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Polymicrogyria Nausea and vomiting Papule Breast carcinoma Dysdiadochokinesis Abnormality of the kidney Abnormality of the vasculature Astrocytoma Abnormality of the uterus Furrowed tongue Hydrocele testis Megalencephaly Skin tags Papilledema Scaphocephaly Hand polydactyly Renal cell carcinoma Hodgkin lymphoma Thyroiditis Acute myeloid leukemia Cellulitis Cystic hygroma Macule Melanocytic nevus Leukemia Intellectual disability, moderate Long penis Nonketotic hypoglycemia Generalized hypotonia Abnormal circulating insulin level Increased circulating free fatty acid level Enlarged tonsils Increased hepatic glycogen content Follicular hyperplasia Hypoglycemic coma Hypoglycemic seizures Hypertelorism Hypoketotic hypoglycemia Recurrent hypoglycemia Hemihypertrophy Flushing Neonatal hypoglycemia Truncal obesity Large for gestational age Generalized-onset seizure Ataxia Failure to thrive Carcinoma Atrial septal defect Proximal muscle weakness Narrow mouth Autism Headache Immunodeficiency Kyphosis Diarrhea Hydrocephalus Cataract Tremor Downslanted palpebral fissures Myopia Brachydactyly Motor delay Delayed speech and language development High palate Low-set ears Cellular immunodeficiency Cavernous hemangioma Hypertension Dermal atrophy Fragile skin Skin vesicle Long nose Atrophic scars Agenesis of permanent teeth Hypermelanotic macule Urticaria Cutis laxa Striae distensae Osteolysis Joint dislocation Vasculitis Hoarse voice Mitral regurgitation Thin skin Osteoarthritis Fine hair Abnormal joint morphology Premature loss of teeth Microdontia Cigarette-paper scars Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Poor wound healing Gingival bleeding Premature loss of primary teeth Chronic pain Mitral stenosis Generalized joint laxity Periodontitis Gingivitis Soft skin Subarachnoid hemorrhage Blue sclerae Bruising susceptibility Enlarged polycystic ovaries Angioid streaks of the fundus Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Abnormality of the penis Pseudopapilledema Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Papilloma Progressive macrocephaly Mucosal telangiectasiae Arachnodactyly Merkel cell skin cancer Carious teeth Scarring Joint laxity Pes planus Inguinal hernia Flexion contracture Lobular carcinoma in situ Multiple trichilemmomata Ductal carcinoma in situ Acrokeratosis Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Localized epidermolytic hyperkeratosis



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